CHRISTIAN MEDICAL COLLEGE & HOSPITAL

VELLORE

DEPARTMENT OF PAEDIATRIC ORTHOPAEDICS

5th Post Graduate EXAMINATION COURSE IN PAEDIATRIC ORTHOPAEDICS

Date: 17/04/2021
 Message from the POR Team

Paediatric Orthopaedics is rapidly gaining ground in India. Many

children’s hospitals are coming up and there is a growing need for
well-trained Paediatric Orthopaedicians in the country as almost 40%
of the population comprises of children / young adults. Christian
Medical College, Vellore is proud to be in the forefront of training
and educating young orthopaedic surgeons in this field. This is the 5 th
year of conducting this course which will benefit the exam going
DNB / MS (Orth) students and might help to motivate them to take
up Paediatric Orthopaedics as a future career option. This book is the
result of the efforts of the entire Paediatric Orthopaedic team at
CMC, Vellore.
 ACKNOWLEDGEMENT

DR. VRISHA MADHURI

DR. THOMAS PALOCAREN

DR. ABHAY GAHUKAMBLE

EDITED BY:

DR. DEEPTIMAN JAMES

DR. CHANDY V J

DR. SHYAM SUNDAR L.G.

COMPILED BY:

DR. VINOD KUMAR DUBEY

DR. NABILA KHAN

DR. ARUN KUMAR HULSOORE

DR. ABHISHEK NANDI

DR. GOPI MANOHAR

DR. RAHUL GEORGE

DR. RENJU MATHEW THOMAS

DR. RAJ MANOHAR NISHANTH

TOPIC FOR DISCUSSION

1. OSTEOSARCOMA
2. EWING SARCOMA

3. OSTEOID OSTEOMA

4. OSTEOCHONDROMA

5. FIBROUS DYSPLASIA

6. BENIGN LYTIC LEISONS

7. DEVELOPMENTAL DYSPLASIA OF HIP

8. LEGG CALVE PERTHES DISEASE

9. DEVELOPMENTAL COXA VARA

10. IDOPATHIC CHONDROLYSIS OF HIP

11. POST SEPTIC SEQUELAE HIP

12. TUBERCULOSIS OF THE HIP

13. PROXIMAL FEMORAL FOCAL DEFICIENCY

14. SLIPPED CAPITAL FEMORAL DEFICIENCY

15. GENU VARUM/VALGUM

16. CONGENITAL PSUEDOARTHROSIS OF TIBIA

17. FIBULAR HEMIMELIA

18. TIBIAL HEMIMELIA

19. CONGENITAL VERTICAL TALUS

20. CONGENITAL TALIPES EQUINOVARUS

21. CUBITUS VARUS/ SUPRACONDYLAR HUMERUS FRACTURE

22. CUBITUS VALGUS/ LATERAL CONDYL FRACTURE

23. UNREDUCED RADIAL HEAD DISLOCATION

24. CEREBRAL PALSY

25. OSTEOMYELITIS

26. OSTEOGENESIS IMPERFECTA

27. ARTHROGRYPOSIS MULTIPLEX CONGENITA

28. MENINGOMYELOCOELE
 OSTEOSARCOMA

Spindle cell neoplasms that produce osteoid are arbitrarily classified as osteosarcoma.
Most common primary bone tumor after myeloma.

There are many types of osteosarcoma, which include

● Intramedullary osteosarcoma (ordinary or classic osteosarcoma, high grade
conventional osteosarcoma , intraosseous well differentiated low grade osteosarcoma,
small cell osteosarcoma, telangiectatic osteosarcoma),
● Surface osteosarcoma- Parosteal osteosarcoma, Periostealosteosarcoma, high grade
surface osteosarcoma
● Secondary-Osteosarcoma occurring with Paget disease, and Osteosarcoma after
irradiation.

Based on histology
● Chondroblastic
● Osteoblastic
● Fibroblastic
● Fibrohistocytic
● Giant cell rich osteosarcoma
● Osteoblastoma like osteosarcoma
● Intracortical osteosarcoma
● Small cell osteosarcoma

Historically, osteosarcoma was treated by amputation; long-term studies demonstrated

a survival rate of only10% to 20%, the pulmonary system being the most common site of
failure.

Multi-agent chemotherapy has dramatically improved long-term survival and the

potential for limb salvage.
Common drugs included in the multi agent chemotherapy include,

• Doxorubicin (cardiac toxicity)

• Cisplatin (neurotoxicity)
• Methotrexate (for cases of myelosuppression, also administer leucovorin)
Chemotherapy both kills the micro-metastases that are present in 80% to 90% of
patients at presentation andsterilizes the reactive zone around the tumor.

Preoperative chemotherapy is delivered for 8 to 12 weeks, followed by resection of the

tumor.

Chemotherapy protocol-
Cisplatin, adriamycin, methotrexate(PAM) of one cycle followed by surgery followed by
six cycles of MAP

Osteosarcoma metastasizes most commonly to the lung and next most commonly to
bone.
Rate of long-term survival is approximately 60% to 70%.

Worse prognostic factors that affect the survival rate include,

(1) Expression of P-glycoprotein,
(2) High serum level of alkaline phosphatase,
(3) High lactic dehydrogenase level,
(4) Vascular invasion, and no alteration of DNA ploidy after chemotherapy,
(5) Absence of anti–shock protein-90 antibodies after chemotherapy, and
(6) Poor response to chemotherapy as seen on histologic tumor necrosis (<90%).

Osteosarcoma is associated with an abnormality in the tumor suppressor genes Rb

(retinoblastoma) andp53 (Li-Fraumeni syndrome).

High-grade intramedullary osteosarcoma

Also called “classic” osteosarcoma, this neoplasm is the most common type of
osteosarcoma andusually occurs about the knee in children and young adults, but its
incidence has a second peak in late adulthood.
Other common sites include the proximal humerus, proximal femur, and pelvis.
Patients present primarily with pain.
More than 90% of intramedullary osteosarcomas are high grade and penetrate the
cortex early to form a soft tissue mass (stage IIB lesion).
About 10% to 20% of affected patients have pulmonary metastases at presentation.
 Radiographs
demonstrate a lesion
in which there is
bone destruction and
bone formation.

On occasion, the lesion is purely sclerotic or lytic.

MRI and CT are useful for defining the anatomy of the lesion with regard to
intramedullary extension, involvement of neurovascular structures, and muscle invasion.

Diagnosis depends on two histologic criteria:

(1) Tumor cells produce osteoid and
(2) Stromal cells are frankly malignant.

Treatment comprises of neoadjuvant chemotherapy (i.e., before surgery), followed by

wide-margin surgical resection and adjuvant chemotherapy (i.e., after surgery)

Parosteal osteosarcoma (low-gradesurface)

Low-grade osteosarcoma that occurs on the surface of the metaphysis of long

bones. Affected patients often present with a painless mass.Most common sites are the
posterior aspect of the distal femur, proximal tibia, and proximal humerus.Characteristic
radiographic appearance: a heavily ossified, often lobulated mass arising from the
cortex.

Most prominent histological

feature is regularly arranged
osseous trabeculae;
Between the nearly normal
trabeculae are slightly atypical
spindle cells, which typically
invade skeletal muscle found at
the periphery of the tumor.
 Histologically can be mistaken for fibrous dysplasia.
Treatment comprises of resection with a wide margin, which is usually curative.
Low-grade lesions do not require chemotherapy. Of the lesions that appear
radiographically to be parosteal osteosarcoma, approximately 17% are high-grade
malignancies (dedifferentiated parosteal osteosarcoma).

Periosteal osteosarcoma (intermediate grade surface)

Rare surface form of osteosarcoma occurs most oftenin the diaphysis of long bones
(typically femur ortibia).

Radiographic appearance is fairly

constant: a sunburst-type lesion
rests on a saucerized cortical
depression.

Histologic characteristics: lesion is predominantly chondroblastic;

Grade of lesion is intermediate (gradeII). Highly anaplastic regions are not found.
Prognosis for periosteal osteosarcoma isintermediate between those of very low-grade
parosteal osteosarcoma and high-grade intramedullary osteosarcoma.
Preoperative chemotherapy, resection, and maintenance chemotherapy constitute the
preferred treatment. The risk of pulmonary metastasisis 10% to 15%.

High-grade surface osteosarcoma

Extremely rare form of surface osteosarcoma.Imaging is a mixed lytic sclerotic

aggressive surfacelesion in the metaphysis or diaphysis.
Treatment and prognosis is the same as conventional osteosarcoma.

Telangiectatic osteosarcoma

Tissue of the lesion can be described as a bag ofblood with few cellular elements.
Radiographic features of telangiectatic osteosarcomaare those of a destructive, lytic,
expansile lesion.
Telangiectatic osteosarcomas occur in the samelocations as aneurysmal bone cysts -
proximal humerus, proximal femur, distal femur, proximal tibia;
radiographicappearances of both can be confused. Differentiating ABC from
telangiectatic osteosarcoma is difficult and critical.

SURGICAL MANAGEMENT

PRINCIPLES OF TUMOUR BIOPSY:

1. Biopsy should be done only after clinical, laboratory, and roentgenographic

examinations are complete. This will help in planning the placement of the biopsy
incision. It will also help to make an accurate diagnosis

2. Place small incisions whenever possible; also use small capsular incisions over the
tumour thus reducing bleeding

3. The biopsy track should be considered contaminated with tumor cells. Placement of the
biopsy incision therefore is important because the biopsy track should also be excised en
bloc with the tumor subsequently.

4. The surgeon should be familiar with incisions for limb salvage surgery, and also with
standard and nonstandard amputation flaps.

5. If a tourniquet is used, the limb is elevated before inflation but should not be
exsanguinated by compression because the latter may cause tumour spread.

6. Care should be taken to contaminate as little tissue as possible. Transverse incisions

should be avoided since they are extremely difficult or impossible to excise with the
specimen. The deep incision should go through a single muscle compartment (muscle
belly) rather than through an intermuscular plane. Major neurovascular structures should
be avoided. Care should be taken not to contaminate flaps. Minimal retraction should be
utilized to limit soft tissue contamination.

7. If possible soft tissue extension of a bone lesion should be sampled

8. If a hole must be made in the bone, it should be round or longitudinally oval to

minimize stress concentration and prevent a subsequent fracture. A fracture may preclude
a subsequent limb salvage surgery. PMMA is plugged into the hole to contain a
hematoma. Only minimal amount of PMMA needed to plug the hole should be used
because excessive amounts will push the tumor up and down the bone.

9. Biopsy should be taken from the periphery of the lesion, which contains the most
viable tissue. Biopsy material may be sent for culture and sensitivity if there is a doubt
regarding infection

10. A frozen section should be sent intraoperatively to ensure that diagnostic tissue has
been obtained. If a tourniquet has been used it should be deflated and meticulous
haemostasis ensured before closure, since a hematoma would be contaminated with tumor
cells.
11. Drains should not be used routinely. If a drain is used, it should exit in line with the
incision so that the drain track also can be easily excised en bloc with the tumor. The
wound should be closed tightly in layers.

12. When performing an open biopsy the operating surgeon should accompany the
specimen to the pathologist if feasible and should discuss with the pathologist about
clinical findings, imaging, intraoperative findings and the specimen.

Mankin HJ, Mankin CJ, Simon MA: The hazards of the biopsy, revisited. Members of the
Musculoskeletal Tumor Society. J Bone Joint Surg 1996; 78A:656.

Surgical margins-
1.5.cm beyond the T1 tumour margin is safe and also limits unwarranted surgical bone
loss.
(Accuracy of various MRI sequences in determining the tumour margin in
musculoskeletal tumours. TharaniPutta, Sridhar Gibikote, Vaishak Madhuri, Noel Walter)

Limb salvage options :

1. Resection and arthodesis
2. Allograft
3. Allograft prosthesis composites
4. Megaprosthesis
5. Extracorporeal resection of tumour and reimplantation
6. Rotationplasty

Limb salvage in pediatric population- controversy

●High complications
●25% revision rates
●Lysis of physics

For these reasons, some surgeon maintained that the children with lower exteremity , far
from skeletal maturity might be best served by single amputation surgery with subsequent
prosthesis fitting.
BIOLOGICAL RECONSTRUCTION MEGAPROSTHESIS
 EWING’S SARCOMA

Distinctive small round cell sarcoma that occurs mostoften in children and young adults;
most affectedchildren are older than 5 years.

Most common locations include the pelvis, distalfemur, proximal tibia, femoral
diaphysis, and proximalhumerus.
Commonly manifests with pain and fever.
Affected patients may exhibit an elevated ESR,leukocytosis, anemia, and an elevated
white blood cell count.

Radiographs often show a large

destructive lesion that involves the
metaphysis and diaphysis.
Lesion may be purely lytic or may have
variable amounts of reactive new bone
formation.
Periosteum may be lifted off in multiple
layers, which produces a Codman
triangle and an Onionskin appearance.
Soft tissue component is often large.

Immunohistochemistry studies reveal CD99positivity.

Classic 11: 22 chromosomal translocation produces theEWS/FLI1 fusion gene.

Sheets of small, round, uniform cells with scant clear cytoplasm,

divided into irregular lobules by fibrous strands
Indistinct cell membranes
Round nuclei with indentations, small nucleoli with minimal amounts
of stroma and few mitoses
May have large pleomorphic cells, organoid pattern, filigree pattern
(large areas of perivascular tumor necrosis with "ghost cells")

Bone marrow biopsy is performed for staging purposes.

When a small blue cell tumor is found in a child younger than 5 years, metastatic
neuroblastoma and leukemia should be confirmed or ruled out.
In patients older than 30 years, metastatic carcinoma must be confirmed or ruled out.

Treatment: a multimodality approach with multi-agentchemotherapy, irradiation, and

surgical resection
Standard treatment includes chemotherapy.
Local tumor control may be irradiation orsurgery.
Major benefits of wide-margin surgical resectionare a decrease in the risk of local
recurrence andavoidance of the potential for postirradiationsarcoma.
Radiation may be used primarily for pelvic andspine disease where resection is morbid,
or as anadjunct to surgery to maintain function whilesparing critical structures.
Survival
Rate of long-term survival with multimodalitytreatment may be as high as 60% to 70%.
There is a consistent chromosomal translocation(11;22) with the formation of a fusion
protein(EWS-FLI 1).
Metastatic disease involves the lungs (50%), bone (25%), and bone marrow (20%).

Poor prognostic factors include:

o Spine and pelvic tumors
o Tumors larger than 100 cm3 in diameter
o A poor response to chemotherapy (<90% tumor cell necrosis)
o Elevated lactic dehydrogenase levels
o The P53 mutation and gene fusion products other than EWS-FLI 1.

Chemotherapy-
Vincristine,Ifosfamide,doxorubicin,etoposide
Six cycle of chemotherapy to be given followed by surgery and then six cycle of
Vincristine, adriamycin , cyclophosphamide
If metastasis is present the ifosfamide can be added.

OSTEOID OSTEOMA

Self-limiting benign bone lesion that produces pain in young patients (<30 years of age)

Presents classically with pain at night that increases with time attributed to increased
concentration of Prostaglandin E2 and COX1 & COX2 expression.
Hence pain is relieved by salicylates and other NSAIDs.
Pain may be referred to an adjacent joint, and when the lesion is intracapsular, it may
simulate arthritis.

Common locations include diaphyseal bone, proximal femur, tibia, and spine.

May produce painful nonstructural scoliosis, growth disturbances, and flexion

contractures

Osteoid osteoma producing a painful

scoliosis results commonly due to lesion
in the posterior elements of spine on the
concave side of the curve.
This is thought to result from marked
paravertebral muscle spasm.

Radiographs usually show intensely reactive bone and a radiolucent nidus. Many a times
because of the intense reactive sclerosis, it may only be possible to detect the nidus with
CT or MRI.
The nidus is by definition always less than 1 cm in diameter, although the area of
reactive bone sclerosis may be greater.

CT is superior to MRI in detecting and characterizing

osteoid osteomas;
CT demonstrates better contrast between the lucent nidus
and reactive bone.

Technetium-labeled bone scans always yield positive findings and show intense
focal uptake.
 The double density sign, also sometimes
referred to as the hotter spot within hot
area sign, is a bone scan sign of an osteoid
osteoma.

There is a distinct demarcation between the nidus and the reactive bone (nidus consists
of an interlacing network of osteoid trabeculae with variable mineralization), trabecular
organization is haphazard, and the greatest degree of mineralization is in the center of
the lesion.

Histology shows mineralized woven bone

with regularly shaped nuclei containing
little chromatin but abundant cytoplasm
and appears similar to osteoblastoma.

Patients can be treated with three different methods:

● NSAIDs,
● CT scan–guided radiofrequency ablation (RFA),and
● Open surgical removal.
In about 50% of patients treated with NSAIDs, the lesions burns out over time (several
years),with no further medical or surgical treatment necessary.

CT scan–guided RFA is the dominant method of treatment.

A radiofrequency probe is placed into the lesion; and the nidus is heated to 80°C.
A lesion close to a critical structure (i.e., neurovascular bundle or spinal cord) is a
contraindication to RFA.
Surgery is preferred in such situations.

OSTEOCHONDROMA

Benign surface lesions arise secondary to aberrant cartilage from the perichondrial ring
on the surface of bone.
They manifest with a painless mass after trauma, or the mass is discovered incidentally.
Osteochondromas usually occur about the knee (distal femur and proximal tibia),
proximal femur, and proximal humerus.Sub-ungual exostosis occurs most often at the
great toe.
.
 Characteristic appearance: a surface lesion in
which the cortex of the lesion and the underlying
cortex are continuous and the medullary cavity of
the host bone also flows into (is continuous with)
the osteochondroma.

Osteochondromas may have a narrow stalk

(pedunculated) or a broad base (sessile).

Typically occur at the site of tendon insertions; affected bone is abnormally wide.
Underlying cortex is covered by a thin cap of cartilage (usually only 2-3 mm thick; in a
growing child, the cap thickness may exceed 1-2 cm).

Chondrocytes are arranged in linear clusters, with anappearance resembling that of the
normal physis.

Peripheral portion shows a cartilage cap

covered by a layer of perichondrium.
Active enchondral ossification is present
with widely dilated capillaries at the
base of the cartilage.
Bone within osteochondroma shows
persistence of partially ossified hyaline
cartilage.

When asymptomatic, these lesions are treated with observation only.

Surgery is considered only when patients experience pain secondary to muscle irritation,
mechanical trauma(contusions), or an inflamed bursa over the lesion.

Malignant transformation

● Pain in the absence of mechanical factors is a warning sign of malignant change.

● Development of a sarcoma in an osteochondroma is rare, occurring in far less than
1% of cases.
● Destruction of the subchondral bone, mineralization ofa soft tissue mass, and an in
homogeneous appearance are radiographic changes of malignant transformation.

A low-grade chondrosarcoma is usually present following malignant

transformation,although a dedifferentiated chondrosarcoma may occurin rare cases.
The lesion is termed a “secondary chondrosarcoma.”
The prognosis is usually excellent; these low-gradetumors seldom metastasize.

Multiple hereditary exostoses

This is an autosomal dominant condition withmutations in the EXT1 and EXT2 gene loci.
The osteochondromas are often sessile and large.

Most common sites of deformity include the

knee, forearm, and ankle
Femoral shortening and limb-length discrepancy
Coxa valga
Knee valgus (because of shortened fibula) and
patellar dislocation
Ankle valgus (because of shortened fibula)
Ulnar shortening

Approximately 10% of patients with multipleexostoses develop a secondary

chondrosarcoma.
The EXT1 mutation is associated with a greaterburden of disease and higher risk of
malignancy

FIBROUS DYSPLASIA
This condition is a developmental abnormality of bone that is characterized by
monostotic or polyostotic involvement.
Yellow or brown patches of skin (café au lait spots with irregular borders) may
accompany the bone lesions.

The primary pathology is failure of the production of normal lamellar bone due to
genetic mutation of the GSα surface protein - GNAS1-resulting in increased production
of cyclic adenosine monophosphate (cAMP).

When endocrine abnormalities (especially precocious puberty) accompany multiple

bone lesions and skin abnormalities, the condition is called McCune-Albright syndrome.

Any bone may be involved; proximal femur is most commonly affected.

Variable radiographic appearance - looks highly lytic or like ground glass with well-
defined rim of sclerotic bone.

Proliferation of fibroblasts produces a dense

collagenous matrix.
Trabeculae of osteoid and bone within the
fibrous stroma with variable amounts of
cartilage.
Bone fragments are present in a disorganized
manner, and their appearance has been likened
to “alphabet soup” and “Chinese letters.”

Treatment is decidedupon the presence of symptoms and the anticipated risk of

fracture.
Internal fixation and bone grafting are used in areas of high stress in which non-
operative treatment would not be effective.
Most affected patients do not need surgical treatment.
Autogenous cancellous bone grafting is neverused since transplanted bone is quickly
transformed into the woven bone of fibrous dysplasia.
Hence cortical or cancellous allografts are only usually used.

Medical therapy comprises of bisphosphonate therapy which has shown to be effective

in decreasing pain and reducing bone turnover in patients with polyostotic fibrous
dysplasia.

Osteofibrous dysplasia (Ossifying fibroma /Jaffe-Campanacci lesion)

Primarily involves the tibia and is usually confined to the anterior tibial cortex.
Bowing is very common, and affected children may develop pathologic fractures.
Lesion typically manifests in children younger than 10 years.

Biopsy is not necessary.

Biopsy, when performed,
reveals fibrous tissue stroma
and a background of bone
trabeculae with osteoblastic
rimming.

Non-operative treatment is preferred until the child reaches maturity.

These lesions usually regress and do not cause problems in adults.

BENINGN LYTIC LESIONS OF BONE

ANEURYSMAL BONE CYST (ABC)

Non-neoplastic reactive condition that may be aggressive in its ability to destroy normal
bone and extend into the soft tissues.ABCs arise primarily in bone or usually found in
association with other tumors (e.g., giant cell tumor, chondroblastoma, chondromyxoid
fibroma, fibrous dysplasia).
75% of patients with an aneurysmal bone cyst areyounger than 20 years.
ABCs may manifest with pain and swelling.
Characteristic radiographic finding comprises of an eccentriclytic, expansile area of bone
destruction in the metaphysis
In classic cases, there is a thin rim of periosteal new bone surrounding the lesion.
Radiograph may demonstrate the periosteal bone if it is mineralized.

PREOP POSTOP- CURETTAGE +BONE SUBSTITUTE

MRI usually shows the periosteal layer surrounding the lesion.

Fluid-fluid levels visible on T2-weighted MRI scans are characteristic of aneurysmal bone
cysts.
Essential histologic feature include cavernous blood-filled spaces without an endothelial
lining
There are thin strands of bone present in the fibrous tissue of the septa with occasional
numerous benign giant cells.
Treatment comprises of careful meticulous extended curettage with burr and dental
mirror followed by bone grafting.
Local recurrence varying from 15 – 40 % is common in children with open physes.
GIANT CELL TUMOR (GCT)

Distinctive neoplasm that has poorly differentiated cells. GCTs arebenign lesions but
locally aggressive seen commonly in the age group of 20 – 40 years.
Most common in the epiphysis and metaphysis oflong bones; about 50% of lesions occur
about theknee. Vertebra, sacrum, and distal radius areinvolved in about 10% of cases.
The sacrum is the most common axial location ofgiant cell tumors of bone.
Unlike most bone tumors, which occur more often inboys and men, giant cell tumors are
more common ingirls and women.
They are uncommon in children with open physis.
Manifest with pain that is usually referable to the jointinvolved
A purely lytic destructive lesion in the metaphysisthat extends into the epiphysis and
often borders the subchondral bone.
Early in the symptomatic phase, radiographs mayappear normal; a small lytic focus is
difficult todetect.
Basic proliferating cell has a round to oval or evenspindle-shaped nucleus (giant cells
appear to havethe same nuclei as the proliferating mononuclearcells). Mitotic figures
may be numerous.
Giant cell tumors may undergo a number ofsecondary degenerative changes, such
asaneurysmal bone cyst formation, necrosis,fibrous repair, foam cell formation, and
reactivenew bone.
In a few cases (<5%), this benign tumor metastasizes to the lungs (benign metastasizing
giant cell tumor).

Treatment is aimed at removing the lesion, withpreservation of the involved joint.

Extensive exteriorization (removal of a large corticalwindow over the lesion) followed by
thorough curettage with manual and power instrumentsis always indicated to prevent
recurrences.
Phenol, Hydogen Peroxide, Pamidronate, are some of the agents used as adjuvants in
the treatment of GCT.
Denosumab – RANK ligand inhibitor is used in recurrent GCTs and GCTs in inaccessible
areas such as spine and pelvis.
Area of defect is usually reconstructed withsubchondral bone grafts,
methylmethacrylate, orboth.
UNICAMERAL BONE CYST (SIMPLE BONE CYST)

Occurs most often in the proximal humerus; other sites are proximal femur and distal
tibia
Symmetric cystic expansion with thinning of the involved cortices.
Manifests with pain, usually after a fracture caused by minor trauma.
Central lytic area and symmetric thinning of the cortices.
Affected bone is often expanded; however, the bone is generally no wider than the
physis and often appears trabeculated.
When the cyst is close to the physeal plate, the process iscalled active; when normal
bone intervenes, the cyst istermed latent.
Thin fibrous lining contains fibrous tissue, giant cells,hemosiderin pigment, and a few
chronic inflammatorycells.
Treatment of SBC begins with fracture healing by immobilization alone, and if there is
any question about diagnosis, advanced imaging and biopsy may be indicated. 
Aspiration followed by methylprednisolone acetateinjectionare the only evidence-based
treatment for SBCs. (Current Opinion in Pediatrics 2011, 23:73–77)
However unicameral bone cysts of the proximal femur are oftentreated with curettage,
grafting, and internal fixation toavoid fracture and osteonecrosis.
 Pathological fracture
through a unicameral bone
cyst demonstrating “fallen
leaf/fragment” sign.

ENCHONDROMA

Benign cartilaginous tumors occurring in the medullary cavity in the metaphysis of long
bones, especially the proximal femur and humerus and the distal femur.
Enchondromas are also common in the hand, where they usually occur in the diaphysis
and metaphysis. Lesions in the hand may be hypercellular and display worrisome
histologic features, and pathologic fractures in the hand are common.
Most enchondromas in long bones are asymptomatic.
Radiographically there may be a prominent stippled or mottled calcified appearance.
Tumor is composed of small cells that lie in lacunar spaces; it is hypocellular, and the
cells have a bland appearance (no pleomorphism, anaplasia, or hyperchromasia).
When lesions are not causing pain, serial radiographs are obtained to ensure that the
lesions are inactive (not growing). Radiographs are obtained every 3 to 6 months for 1 to
2 years and then annually as necessary.

Enchondroma can be distinguished from low-grade chondrosarcoma on serial plain

radiographs. In low-grade chondrosarcomas, cortical bone changes (large erosions
[>50%] of the cortex, cortical thickening, and destruction) or lysis of the previously
mineralized cartilage is visible.

OLLIER DISEASE/MAFFUCCI SYNDROME

When there are many lesions, the involved bones are dysplastic, and the lesions tend
toward unilaterality, the diagnosis is multiple enchondromatosis, or Ollier disease.
Inheritance pattern is sporadic. If soft tissue angiomas are also present, the diagnosis is
Maffucci syndrome.Patients with multiple enchondromatosis are at increased risk of
malignancy (in Ollier disease, 30%; in Maffucci syndrome, 100%).
Patients with Maffucci syndrome also have a markedly increased risk of visceral
malignancies, such as astrocytomas and gastrointestinal malignancies.
For most enchondromas, no treatment other than observation is required.
When surgical treatment is necessary, enchondromas are treated by curettage and bone
grafting.
 DEVELOPMENTAL DYSPLASIA OF HIP

History:

● Family history
● Birth order-First-born children are affected twice as often
● Enquire about prenatal ultrasound details: Breech position, Oligohydramnios
● H/o any postural abnormalities after birth.(Torticollis,Metatarsus adductus,
calcaneovalgus)
● Any h/o neonatal infection(?Hip septic arthritis)

Examination:

● Any dysmorphic features(Depressed nasal bridge, low set ears, increased inter-
canthal distance, micrognathia, cleft palate/lip, short stature)
● PosturaldeformitieslikeTorticollis,Metatarsusadductus,calcaneovalgus
● Any other obvious deformities: CTEV, Multiple joint contracture ~ arthrogryposis
● Ligamentous laxity(To be assessed by Wynne-Davies criteria)
● Anyevidenceofspinalabnormalities.(Swelling/palpabledefects/hairypatchesoverthe
back).
● Anyotherjointdislocations:Knee,radialheadarthrogryposis,Larsen’ssyndrome
Localexamination:
● Before 3 months- Barlow test, Ortolani test, Galeazzi test
● From 3months to 1year – Limitation in abduction; Klisic test- for bilateral DDH.
● Walking age :Trendelenberg gait/Waddling gait in bilateral cases.
● Shortening
Exaggerated internal and external rotations
● Telescopy test +ve
● Trendelenberg test +ve

INVESTIGATIONS-
1. USG- Used in children less than 6months.
(The capital femoral epiphysis appears by 4-6m).
Angles measured – Alpha angle (angle between bony acetabulum and bony ilium ,
normally > 60degrees.)
Beta angle – (angle between labrum and ilium, Normal is less than
55degrees.)

2. X ray: Look for:

● Shenton’s line
● Acetabular index
● Center-edge angle
IHDI ( international hip dysplasia institute) classification – Used when the femoral ossific
nucleus has not yet appeared. The centre of the metaphyis is taken as a guide.Grade 2 is
subluxation and Grade 3, 4 – dislocation.

DDs of congenital hip dislocation

Idiopathic DDH
Post septic
Neuromuscular
(Myelomenigocele, CP, muscular
dystrophy)
Syndromic (Larsen’s syndrome)
Teratological- the hip is dislocated in
utero (Arthrogryposis)
TREATMENT

FROM BIRTH TO 6 MONTHS

● Subluxation/dysplasia of the hip at birth often corrects spontaneously during initial 3

weeks and may be observed during this period without treatment.
● Whenevidenceofsubluxationofthehippersistsbeyond3weeksonphysical examination or
ultrasonographic evaluation, treatment is indicated.
● When actual hip dislocation is noted at birth, treatment is indicated without need for an
observation period.
● Pavlik harness: Patient with dislocated hips on harness should be followed up weekly till
reduction occurs (maximum 2 weeks).For hips achieving reduction with harness, it must be
worn for 3 more months after the hip joint has got reduced. During this period continuing
stability of hip must be assured by 2 weekly follow up visits. The harness is worn full time for
half of the treatment time (6 weeks) ; after which weaning is started.
● If the hip is not reduced in 2 weeks by this technique, use of pavlik harness is ceased..

6 MONTHS TO 18 MONTHS

Closed Reduction
● Closed reduction under general anaesthesia can be attempted in aged 6 to 24 months who
have a dislocated hip.
● Post reduction arthrogram is done; if it shows concentric reduction--->hip spica
● 100 degrees of flexion and <55degrees abduction.
● Reduction of the hip is confirmed by using a limited computed tomographic scan.
● The spica cast is maintained for 3 months regardless of the age of the child. After 3
months, an abduction orthosis is applied for full-time wear for 4weeks, followed by 4
weeks of night time-only use.

● If closed reduction is not achieved--->open reduction

18 MONTHS TO 36 MONTHS

Open reduction (preferred choice)

Two approaches:
1. Modified Smith-Petersen anterolateral approach, performed via a “bikini” incision- most
common.
2. Medial approach < 12 to 18 months of age (easier for bilateral cases as well)
● Following open reduction, a spica cast is used for approximately 6 weeks with
immobilization in about 30degrees of abduction, 30 degrees of flexion, and 30 degrees of
internal rotation.
Common obstacles to open reduction-
● Inverted labrum, Inverted limbus, Hip capsule, Iliopsoas tendon (psoas crosses the
acetabulam blocking reduction- hour glass configuration of joint space in arthrogram),
Transverse acetabular ligament, pulvinar, ligamentum teres,

Femoral Osteotomy

● Done along with open reduction if there is considerable proximal migration of the femur.
● Facilitates reduction and decrease the rate of osteonecrosis
● Derotation is done if excessive femoral anteversion is present.
● Need for adding a varus component to the osteotomy is controversial

Acetabular procedure
Acetabular procedures indicated at this age: Salter innominate osteotomy.

TREATMENT AFTER 3 YEARS:

● Open reduction can be attempted till 10 years in unilateral and 8 years in bilateral hip
dislocation.
● Usually it has to be combined with proximal femoral osteotomy and acetabular
procedure.
● Choice of acetabular procedure depends on whether hip is reduced/ not and degree of
acetabular changes.

With Concentric Reduction

Younger than 8 years of age
▪ Salter
▪ Pemberton/Dega
8-15yr of age (triradiate open)
▪ Dega
▪ Double innominate (Sutherland)
▪ Triple innominate (Steel)

Older than15 yr of age (triradiate closed)

▪ Tripleinnominate
▪ Spherical (Wagner,Eppright)
▪ Periacetabular osteotomy(Ganz)

Without Concentric Reduction- salvage procedures

▪ Shelf(Staheli)
▪ Chiari
Sequelae of DDH with secondary osteoarthritis: Total hip arthroplasty.
 LEGG-CALVÉ-PERTHES DISEASE

Symptoms:
● Most common: painless limping.
● Occasionally they may have some pain, mostly in the anterior hip and medial thigh.
● 10-15% patients are affected bilaterally
● Boys more commonly affected
Signs:
● Gait-Trendelenberg gait ± antalgic gait
● Wasting-of thigh and gluteus maximus
● Hip is rarely tender.
● Decreased range of motion in abduction and internal rotation.
● Abduction and internal rotation are the earliest motions to decrease
● Flexion and adduction contractures may develop in some patients.
● Limb length discrepancy of 1to2.5cm
● Positive Trendelenburg sign

Differential diagnosis

A. Arthritis/synovitis: Epiphyseal Dysplasias

● Transient synovitis (Coxitis fugax) Meyer's dysplasia
● Juvenile idiopathic arthritis
Multiple epiphyseal dysplasia

B. Other Causes of Avascular Necrosis Spondyloepiphyseal dysplasia

● Sickle cell disease Mucopolysaccharidoses

● Thalassemia Achondroplasia

● Hemophilia
Other Syndromes
● Steroid medication
Morquios syndrome
● Gaucher's disease
Klinefelter syndrome
● Hypothyroidism
Trisomy21
❖ Groups B, C and D are DDs for bilateral Perthes disease.
X rays:

▪ Routinely, plain x-ray pelvis with both hips and frog leg lateral views are taken.

● Diagnosed by: Widened medial joint space, Smaller ossific nucleus ,Increased radio
density, Decreased epiphyseal height

● Head at risk signs (Catteral’s):

● Gage sign- a radioluscent V shaped defect in lateral epiphysis , speckled calcification

lateral to capital epiphysis, Lateral subluxation of femoral head, More horizontal physis,
metaphyseal cystic changes

● Acetabular changes: early triradiate closure, bi-compartmentilization

● Sagging rope sign: in healed stage

Treatment:

Depends on: Staging, Age, presence of extrusion of capital femoral epiphysis

Staging: Modified Elizabeth town classification by Benjamin Joseph et al.

From:JosephB,VargheseG,MulpuriK,RaoNKL,NairNS.NaturalEvolutionofPerthesDisease:AStudyof610
ChildrenUnder12YearsofAgeatDiseaseOnset.JournalofPediatricOrthopaedics.23:590–600
STAGING(MODIFIED ELIZABETH ALGORITHM FOR MANAGEMENT
TOWN)
OF LCPD

EARLYSTAGE(I,IB,IIA) LATEST AGE(IIB,IIIA,IIIB,IV)

AGE <8YEARS AGE > 8YEARS

EXTRUSION- EXTRUSION+ HINGEDABDUCTION-

HINGEDABDUCTION+

OBSERVE
CONFIRM BY INTROP
ARTHROGRAM

(with x rays every 3 months)

CONTAINMENT SURGERY (VARUS DEROTATION OSTEOTOMY)

( NO INTERVENTIONS TILL HEALED STAGE)

SEQUELAE OF LCPD AND TREATMENT

COXA BREVA: SSD*+ TROCHNTERIC TRANSFER

COXA PLANA: SSD*+HEAD REDUCTION OSTEOTOMY

COXA VARA: MORSCHERS OSTEOTOMY

VALGUS OSTEOTOMY
COXA MAGNA: SHELF PROCEDURE FAI:SSD*+ NECK

OSTEOPLASTY*
 DEVELOPMENTAL COXAVARA

Coxa vara: Abnormal decrease in the femoral neck-shaft angle. The different types:

1. Congenital coxavara:Congenital coxa vara is the type associated with a congenital

short femur and proximal femoral focal deficiency.It is more commonly unilateral and
presents with an out-toeing gait and an external rotation deformity of the hip due to
retroversion of the femoral neck. Later genu valgum frequently develops.It can also be
associated with fibular deficiency.
2. Developmental coxa vara:Developmental coxavara has,in the past,been known as
congenital coxavara.However,it is now termed developmental coxa vara, as most are not
diagnosed at birth but rather present when the child begins to ambulate with a Trendelenberg
limp. Developmental coxavara is bilateral in upto one half of cases.
3. Dysplastic coxavara: Due to underlying bony abnormality: Fibrous dysplasia,
Rickets(Vitamin D-resistant rickets, Renal osteodystrophy, Osteogenesis imperfecta,
Osteopetrosis, Skeletal dysplasias(e.g.spondylometaphyseal,spondyloepiphyseal and
cleidocranialdysostosis).
4. Acquired coxavara: Post-traumatic: Fracture neck of femur/epiphyseal separation,
Slipped capital femoral epiphysis(Adolescent coxavara), Perthes’disease, DDH, Postseptic
sequelle
5. Iatrogenic: Excessive varus osteotomy

Developmental coxa vara

Clinical features:

Usually presents after child starts walking. Symptoms:

▪ Painless limp-combination of Trendelenberg and short limb gait in unilateral cases;

waddling gait with increased lumbar lordosis in bilateral cases.

▪ Pain is rare; older children may report a deep ache in the buttock muscles after
prolonged exercise.
Physical examination:

▪ Greater trochanter-more prominent and proximal.

▪ Positive Trendelenburg test

▪ Limb-length inequality in unilateral cases:rarely greater than3cm at skeletal maturity.

▪ Limitation in hip abduction:due to impingement of the greater trochanter on th eside of

the pelvis.

▪ Limitation of internal rotation:due to loss of femoral anteversion(featureof

developmental coxavara).

History and clinical exam to r/o other causes of coxa vara are important.

Investigations:Plain xray pelvis with hips APview/frog leg lateral

Radiological features:

A. Decreased femoral neck-shaft angle

B. Smaller and flatter femora lhead.

C. Vertical position of physeal plate

D. Shortened femoral neck

E. Triangular metaphyseal fragment (Fairbank’striangle) in the inferior femoral neck,

abutting the physis and bounded by two radiolucent bands with invertedY appearance-
pathognomonic finding.

Important radiological measurements

▪ Head-shaft angle

▪ Hilgenreiner-epiphyseal (H-E) angle: most important, average normal value-16

degrees.
TREATMENT

Main objectives of current treatment approaches:

▪ Correction of the varus angulation into physiologic range(HEanglelessthan30 degrees)

▪ Changing loading on the abnormal femoral neck from shear to compression.

▪ Re-establishment of a proper abductor muscle length-tension relation.

▪ Correction of limb-length inequality

Treatment recommendations:

HE angle <45 degrees: assess or limb-length inequality (in unilateral cases) and for evidence
of skeletal dysplasia. Periodic radiographs to assess progressive deformity until skeletal
maturity.

HE angle: 45 to 59 degrees: serial radiographs are essential so as to assess for progression.

Surgery needed if symptoms are severe.

HE angle ≥60 degrees: Surgical intervention is recommended.

Intertrochanteric corrective osteotomies:

⮚ Pauwel Y-shapedosteotomy

⮚ Langenskiold's valgus-producing osteotomy

Subtrochanteric osteotomies:

⮚ Borden’ssubtrochanteric valgus-producing osteotomy

⮚ Wagner’s method of fixation with bifurcated plate

▪ Decision on which osteotomy to be done depends on surgeon preference.

▪ Appropriate time for surgical intervention in indicated patients is as soon as there is
adequate bone development to allow secure internal fixation.

Limb length discrepancy should be treated according to its severity-Foot wear raise/
contralateral distal femur epiphysiodesis.
 IDIOPATHIC CHONDROLYSIS OF THE HIP

Chondrolysis is a process of progressive cartilage degeneration resulting in joint space

narrowing and progressive loss of motion.

This disorder is common in adolescent females, dark complexion, Afro-Americans.

Causes

IDIOPATHIC, Sepsis, trauma, SCFE treatment (due to pin penetration), prolonged

immobilization

Theories on casuation

Nutritional abnormalities, mechanical injury, ischemia, abnormal intracapsular pressure and

inherent abnormal chondrocyte metabolism.

Recent theory

Auto-immune etiology with deposition of immune complexes.

Clinical features

Presents with pain, limp and progressive loss of motion

Typical deformity

Flexion, abduction and external rotation

Differential Diagnosis

Juvenile Rheumatoid arthritis, Seronegative spondyloarthropathy, septic arthritis, pigmented

villo-nodular synovitis

Radiographic finding

A joint space of less than 3 mm or less than 50 percent of opposite side(Normal= 3 –5 mm)

MRI- Used to rule out other causes like infections and to quantify the amount of cartilage
involvement.

Investigations

Always test for inflammatory markers to rule out Juvenile Rheumatoi Arthritis as ESR and
CRP would be normal in ICH.

Natural history

They develop severe hip stiffness and pain with poor function.

Treatment

Three aims of treatment in patients with ICH can be stated to be

(a) relief of pain
(b) correction of deformity
(c) restoration of hip motion.
Treatment: Non-steroidal anti-inflammatory medications, protected weight
bearing, and maintenance of range of motion.

Bed rest and skin traction have been used during acute exacerbations.

Indications for surgery:

Not clear.

Subtotal capsulectomy, contracture and tendon releases. Characteristic feature

found among all the patients was the near-normal range of motion achieved
when the hip was examined under anaesthesia, indicating that muscle spasm
was a prominent and consistent feature of this condition.

Articulated distraction of the hip using a dynamic axial fixator has also been
reported to yield good results.
 POST- SEPTIC SEQUELAE OF HIP

Pathogenesis of post septic Sequelae of Hip:

Necrosis of the cartilage, ischemic necrosis of the femoral head,

premature closure of the triradiate cartilage, acetabular dysplasia,
premature or asymmetric closure of the proximal femoral physis,
subluxation, dislocation, pseudarthrosis of the femoral neck, greater
trochanteric overriding, and complete destruction of the femoral head
and neck

Clinical features:
Limp
- Hip instability
- Limb length discrepancy
- Pain (secondary)

See classification and treatment methods in table below

Choi classification [Choi IH et al. JBJS (Am) 1990]

Type Pathogene Radiological Intervention

sis features
I Transient IA: No residual Nil
ischemia deformity intervention
of IB: mild coxa
epiphysis magna
II Epiphysis, IIA: Coxa breva Acetabular
physis and with deformed coverage and
metaphysi head head
 c IIB: progressive containment.
involved. coxa vara or Epiphyseodesis
Asymmetr valga Proximal
ic femur
premature realignment
physeal Osteotomy.
closure. GT transfer
III Femoral IIIA: Coxa vara Proximal
neck or valga with femur
involved severe realignment
anteversion or Osteotomy.
retroversion Bone grafting
IIIB: Epiphyseodesis
Pseudoarthrosis for
Neck of femur contralateral
limb (for LLD)
IV Both IVA: Absent Pemberton
femoral femoral head Osteotomy
head and Remnant of Trochanteric
neck are medial femoral arthroplasty
involved neck left Pelvic Support
IVB: Absent Osteotomy
femoral head, Arthrodesis
no articulation Contra lateral
with hip limb
epiphysiodesis
 Choi et al(JBJS-1990)

Trochanteric Arthroplasty

The underlying concept is based on the following two aspects:

(1) The greater trochanter is viable and therefore retains its growth
potential and (2) The hyaline cartilage covering the trochanter when
placed inside the influence of the acetabulum has the potential to
assume a globular shape, resembling the femoral head.
The detached abductor muscles must be transferred down to provide
hip stability and some degree of abductor function. The subsequent
progressive subluxation encountered in most patients, however,
necessitates additional procedures, such as femoral osteotomy, pelvic
osteotomy, and acetabuloplasty, to maintain coverage and
containment.
Trochanteric arthroplasty has many problems and limitations
associated with the uniqueness of the technique for the reconstruction
of femoral – pelvic articulation (1) avascularity of the proximal
segment after femoral varus osteotomy, (2) difficulty in osteosynthesis
at the varus osteotomy site, (3) gradual straightening of proximal
femur caused by remodeling at the osteotomy site, (4) abductor
weakness, (5) stiffness, (6) degenerative arthritis, and (7) difficulty
converting to total hip arthroplasty in adulthood. Of these,
preoperative abductor weakness and stiffness are the two most
important key factors that determine procedure success or failure.

Pelvic support Osteotomies

- Lorenz bifurcation osteotomy
- Schanz Osteotomy
- Milch Batchelor Osteotomy
- Ilizarov Hip reconstruction.

• The pelvic-support osteotomy of Schanz was designed to produce

stability in a dislocated hip by valgus angulation osteotomy, whereby
the lesser trochanter usually was placed into the acetabulum, leaving
the dislocation unreduced.
 Biomechanical
effect Clinical effect Problems
1.No approach to
hip
Joint

1.Placing femur 1.Reduced lurch 2.Valgus

under the pelvis osteotomy
( pelvis supports reduces
the femur) abduction and
2.Increases hence not
functional length favourable from
2. Medializing of limb stability point of
the centre view
of 3.Valgus
gravity malalignment of
knee.
4.LLD is not
addressed in
conventional
3. Increases the Pelvic
mechanical 3.Reduces support
efficiency of trendelenberg gait osteotomy.
abductor as 5.Impingement
muscles further adduction pain
is not possible and when patient
4. More hip pelvis tries o
stability doesn’t drop adduct

• These problems are addressed in Ilizarov Hip Reconstruction by doing

an additional distal femur varus osteotomy and simultaneous
lengthening.
Management of Post septic sequelae of Hip

Choi et al (CORR 2005)

Pelvic support osteotomy - planning

Schematic
diagrams of surgical
planning.

(A) Schematic
representation of a single-
limb – stance radiograph
showing 40_
of adduction and a
Trendelenburg sign.
Femoral adduction
relative to a horizontal
pelvic line represents the
pelvic drop associated
with the Trendelenburg
sign.

(B) Calculation of
the desired angle of
proximal osteotomy. A
total of 15 to 25 degrees
is added to the amount of
adduction as shown in
Fig. 4A.

(C) Determination
of distal osteotomy level
and the degree of varus
correction required
according to the
intersection between the
proximal and distal
mechanical axis lines.
The proximal mechanical
axis is a line
perpendicular to the
horizontal line of the
pelvis that passes through
the proximal femoral
osteotomy site. The distal
mechanical axis line is a
line from the center of the
ankle that passes through
the center of the knee.

(D) Schematic
diagram of a radiograph
made at the end of
distraction showing the
proximal and the distal
osteotomy.
courtesy NAYAGAM et al
 TUBERCULOSIS OF THE HIP

Etio-pathogenesis:
- Tuberculosis of the hip joint accounts for 15-20 % of
Musculoskeletal TB.

- TB Hip spreads by the haematogenous route and the bacteria get

lodged in the synovium. From synovium spreads to bone - kissing
lesions - necrosis of subchondral bone and sequestra.

- Initially extra-articular/ juxta-articular and later involves articular

surface.

- Clinically – presents with painful limp with restriction of ROM

of hip.

Deformities and radiological features follow the Clinico-radiological stages

courtesy Tuli et al (CORR 2002)
Differential Diagnosis :

- Transient synovitis of the hip

- Legg–Calve–Perthe’s disease
- Osteomyelitis of the upper end of the femur
- Injury hip,
- Acute infective arthritis of infancy and childhood
- Osteoid osteoma of the neck of the femur with synovial
involvement,
- Villonodular synovitis,
- Rheumatoid arthritis
- AVN of the head of the femur
- Giant cell variants of upper femur.

Investigations

In advanced arthritis, the picture is of a travelling/wandering

acetabulum, dislocated hip, Perthes type, protrusio acetabuli,
atrophic type, mortar & pestle as described in Shanmugasundaram’s
classification.

In the present time, MRI has helped us to detect the early morbid
pathology in the joint as it shows the pre-destructive lesions like
edema and inflammation. It is a sensitive test to detect soft tissue
abnormalities in and around the joint.

The diagnosis in endemic regions can be made on the basis of clinical

features supported by plain X-ray findings alone, however histo-
pathological diagnosis is desirable.

Arthroscopic synovial biopsy gives definitive diagnosis of various joint

ailments.

Treatment

The standard chemotherapy as accepted universally is with four anti -

tubercular drugs.

Treatment in all stages: ATT, nutritional supplementation and traction,

1. Stage of Synovitis: USG examination; synovial effusion can be

aspirated and subjected for cytology, AFB smear and PCR examination.
If necessary, biopsy can be taken from diseased tissue to establish the
diagnosis. No surgery.

2. Early arthritis: Analgesics supplementation is necessary till

spasm of the muscles is relieved. Non-weight bearing range of motion
exercises are started whenever patient is able to co-operate. A
vigorous passive exercise may produce further pain and spasm and
should be avoided. Failure to respond to non-operative treatment in
the form of absence of improvement in constitutional features /
reduction of pain around hip / increase in the range of movements
may call for confirmation of diagnosis. Synovectomy and joint
debridement are done. Prognosis generally good

3. Late arthritis: Joint debridement, synovectomy and arthrolysis

achieve good passive range of motion intra-op prior to closure. Post-
surgery – skeletal traction followed by supervised ROM

4. Advanced arthritis with subluxation/dislocation: No need for

surgery in sound ankylosis. For unsound ankylosis, extra-articular
corrective osteotomy of proximal femur is done.

5. Girdlestone’s excision arthroplasty can be safely carried out in

healed or active disease after the completion of growth potential of
bones of the hip joint. Mobile, painless, unstable hip is the result. This
helps in squatting, sitting cross-legged, and kneeling. But instability can
be corrected with prolonged traction and Pelvic support Osteotomy.

6. Arthrodesis: Stable, painless hip but not mobile. Not popular in

India due to poor mobility and difficulty in squatting and cross-legged
sitting.

7. Total Hip Arthroplasty: The acceptability of the THA is gradually

increasing globally. No role for hemiarthroplasty as acetabulum is
involved. THA timing is controversial. Most people do it in healed stage
or advanced arthritis with destruction of articular cartilage. Babhulkar
and Pande recommended it to be performed after 10 years. Wang et al
recommend a combination of antituberculous drugs for at least 2
weeks prior to the operation. Sidhu et al performed cemented THR in
23 patients with active tuberculous arthritis of the hip. His patients had
received at least 3 months of antitubercular therapy before surgery
and treatment were continued for a total of 18 months. Kim et al
concluded that THR in patients with active TB of the hip is a safe
procedure. If undertaken in association with extensive debridement
and appropriate anti-TB treatment, it provides symptomatic relief and
functional improvement.
 PROXIMAL FEMORAL FOCAL DEFICIENCY

This is deficiency or absence of the proximal femur partly or fully

(unilateral / bilateral – upto 50%)

Aitken classification-

Type A- hip joint present; defect in the sub-trochanteric region with

coxa vara.

Type B- head in acetabulum; high riding bulbous end of proximal femur

Type- C- Absent femoral head

Type- D - Absent entire proximal femur

Shortening- increases from Type A to Type D

C/F- hip in flexed, abducted and externally rotated

Associated with other anomalies-

45% fibular hemimelia, short tibia, equino valgus foot, missing lateral
rays of foot.

Instability of knee, absent ACL, valgus knee, knee flexion deformity,

incompetent hip abductors and extensors due to abnormal anatomy of
the proximal femur.
GILLESPIE CLASSIFICATION-

Based on treatment plan

Affected and normal limb gentle pulled and kept parallel to each other
Group I-affected limb reaches the mid tibia level of contra-lateral leg
(Aitken A, congenital short femur). Can be considered for limb
lengthening procedures.

(LLD is 20% or less, affected femur at least 60% of normal side)

Group II-includes Aitken A, B, C with true PFFD, affected limb reach up

to the knee level of normal limb. LLD is 35 - 50 %. Require prosthetic
rehabilitation.

Group III - absence of femur (Aitken-Type D). Require prosthetic

rehabilitation.

Treatment-

MRI evaluation –for unossified cartilage, anatomy of the proximal

femur and acetabulum

Aitken-Type A & B- osteotomy, bone gafting, enhance ossification and

LLD management

Aitken-Type C & D—Van Nes rotationplasty/ knee arthrodesis/

amputation /prosthetic fitting

Bilateral- generally avoid surgery – treat each situation based on its

merits.

Gillespie-group I- 60% of normal femur length - consider for limb

lengthening

(Expected LLD at maturity to be determined by applying standard

methods of Anderson, Green & Messner or Moseley.)

Prerequisite for limb lengthening-

1. Ensure hip is stable – if instability exists - Salter/ Dega
osteotomy.( muscle forces created by femoral lengthening
will cause a dysplasic hip to dislocate)

2. Correct a varus and retroverted femur

 3. Release a tight ilio-tibial band
4. Open wedge Osteotomy to correct knee valgus
5. Stabilize knee to avoid flexion deformity and posterior subluxation with
lengthening

Gillespie-group II-equinus prosthesis only Surgical options-

1. Ankle disarticulation + prosthesis

2. Ankle disartculation + knee arthrodesis

3. Ankle dsarticulation + femoral-pelvic arthrodesis

4. Knee fusion, rotationplasty + prosthetic fitting

5. Knee fusion to consider after femur –pelvis fusion (for hip stability)

If amputation is being considered - preferable just before child start walking.

Gillespie-group III-

Arthrodesis not indicated. Prosthetic fitting, may keep foot inside socket for
improved suspension and control.
 SLIPPED CAPITAL FEMORAL EPIPHYSIS

INTRODUCTION:

SCFE occurs when the capital femoral epiphysis (the femoral head) displaces
posteriorly on the femoral neck at the level of the physis (the growth plate). SCFE
is a misnomer because it is actually the femoral neck metaphysis that displaces
anteriorly and superiorly in relation to the capital femoral epiphysis.

ETIOLOGY:

• Mechanical Factors: Thinning of the perichondrial ring complex, Femoral

retroversion, Change in inclination of proximal femoral physis ,Associated
conditions with mechanical etiology Eg. Blounts disease.

• Endocrine Factors: Adiposo-genital syndrome, Hypothyroidism and

hypoestrogenism cause physeal weakness and obesity, increased growth
hormone and testosterone causes physeal weakness, Chronic renal failure (due
to secondary hyperparathyroidism).

PATHOLOGY: In SCFE the displacement occurs at hypertrophic zone. It is a Salter

Harris type I physeal injury. Histopathology shows decreased number of
chondrocytes and increased matrix tissue in proliferative and hypertrophic zones.
The columnar alignment of chondrocytes is disrupted

CLASSIFICATION:

1. Based on duration of symptoms

• Acute slip: Duration of symptoms < 3 weeks.

• Chronic slip: Duration of symptoms > 3 weeks (Most frequent presentation)

• Acute-on-chronic: Duration of symptoms >3 wks with sudden exacerbation.

2. Based on ability to bear weight (Most widely accepted classification)

• Stable: Able to bear weight on affected extremity with/without crutches

• Unstable: Unable to bear weight on affected extremity with/without

crutches

3. Extent of displacement of femoral epiphysis

This is measured as head–shaft angle. HSA measured in frog leg lateral view on
affected hip minus HSA of opposite normal hip (This value is called Southwicks
angle/ Slip angle) is used for the grading. In case there is bilateral involvement,
HSA minus 10 degrees is used to calculate slip angle.

GRADE SOUTHWICKS
OF SLIP ANGLE
MILD <30 degrees
MODER 30-50 degrees
ATE
SEVERE >50 degrees
EPIDEMIOLOGY

• Incidence: 2-13.4/100,000 population approx. (Incidence varies with

geographical areas and race.)

• Sex: Males > females 3:2

• Side: Left > right 3:2

DIAGNOSIS:

History

• Patients typically present with knee, hip, thigh pain. It could be just a hip
discomfort.

• Limp/ altered gait: usually associated with pain, discomfort or may be totally
painless.

• <10% present with h/o trauma and severe pain

• Unstable SCFE presents acutely to Emergency dept. with symptoms similar to

fracture involving the hip- severe pain and inability to bear weight on affected
limb are the features.

Physical examination

•Patients are usually, obese, hypogonadal boys

•Secondary sexual features may be absent

•Gait: Antalgic with Trendelenberg component

•ROM: In unstable SCFE it may not be possible to check movements. In stable

ones there is a characteristic change in arc of motion than a loss of motion. The
loss of ROM in some planes is compensated by gain in the opposite directio.
•Axis/axial deviation: as the affected limb is taken passively into flexion, the limb
goes into external rotation.

•Shortening of up to 2cm can be present.

•In chronic patients, impingement test may be positive. (Pain with passive hip
flexion, adduction and internal rotation).

Investigations: X-ray Plain radiographs are generally sufficient for diagnosis of

SCFE. Pelvis with both hips AP and lateral views are required.

-Frog leg lateral view is the preferred lateral view- more sensitive diagnostic tool
for an early slip than AP view- and it has to be taken in every case except in case
of unstable SCFE.
-in unstable SCFE cross-table lateral

STEEL SIGN

WIDENING OF PHYSIS

RELATIVE DECREASED
HEIGHT OF EPIPHYSIS

KLEIN LINE
Scham’s sign: Overlapping shadow of the slipped epiphysis over the inferomedial

corner of metaphysis

•When the slip has been present for some time: hump appearance can be seen
superiorly and anteriorly

•In acute on chronic type: metaphyseal remodeling along superior and anterior
femoral neck seen.

Other tests:

•In patients who do not have the common profile (i.e. age <10 years or >16 years
and body weight is 50th percentile or less it is better to check, thyroid, GH assays
and renal function.
•Role of CT scan/MRI: No role in diagnosis. (Post op, CT has a role in case screw
penetration in to the hip joint is suspected)
•Bone scan/ F-18 FDG PET CT: Help in diagnosing AVN femoral head early.

In our institution F-18 FDG PET CT is used in the pre-op work up of unstable SCFE
for surgical decision-making (See the treatment section)

Differential diagnosis:

Legg–Calve–Perthes disease, Infection- tubercular/ chronic pyogenic, AVN

femoral head, hip fractures

TREATMENT:
Acute, unstable SCFE: Should be treated surgically as soon as it is recognized.
Early surgical intervention can prevent slip progression and complications
•The patient should be advised not to bear weight on the affected hip

•Preoperative traction is contraindicated since it stretches hip joint capsule and

can restrict blood flow to femoral head.
Even the stable SCFE should be treated as soon as possible, as rapid progression
to a more severe/ unstable slip.

The goal of primary treatment in SCFE:

1. Stabilisation to prevent further slipping

2. Closure of the capital femoral physis

3. Reduction of epiphyseal displacement, (consider this only when the risk of

AVN femoral head is reasonable)

TREATMENT MODALITIES USED IN SCFE:

• In situ screw fixation (Stable SCFE)

• Positional reduction and in situ screw fixation (Unstable SCFE)

• Safe surgical dislocation hip (SSD) and capital realignment (Unstable SCFE)

• SSD and Osteoplasty (Sequelae of SCFE)

• Osteotomies for stable SCFE/Sequelae (Mostly academic role only) Eg. Dunn,
Kramer and Southwick

Prophylactic fixation of opposite uninvolved hip:

In idiopathic SCFE, the incidence of bilateral involvement is quoted as approx.

20%. In SCFE secondary to endocrinopathies or metabolic disease, there is

increased risk of bilaterality and hence it is preferable to do prophylactic

fixation of opposite hip. But in idiopathic SCFE, still there is no consensus

regarding the need for in situ pinning for uninvolved hip.

Many other indicators for need for prophylactic fixation of opposite hip like

Oxford bone score and Posterior sloping angle. are being studied.

COMPLICATIONS: The two most feared complications are osteonecrosis and

Chondrolysis of the hip.

 SCFE

STABLE UNSTABLE

IN SITU FIXATION

MILD MODERATE TO SEVERE

POSITIONAL REDUCTION +
CAPSULAR DECOMPRESSION+
INSITU FIXATION

VASCULARITY OF CAPITAL
FEMORAL EPIPHYSIS BY F18 PET CT

POOR

GOOD

SSD+OSTEOPLASTY IF ANY FAI

SSD+ CAPITAL REALIGNMENT
 GENU VALGUM

Genu valgum (knock knees) is less common than genu varum (bow
legs).

Unilateral Bilateral
Previous proximal tibial
fracture – Physiological
Cozen phenomenon

Post traumatic physeal bar Idiopathic

Systemic conditions – vitamin
Post septic sequelae d
deficiency rickets, renal
osteodystrophy,
spondyloepiphyseal
and metaphyseal dysplasia,
Tumour (osteochondroma) multiple
exostosis, fibrous dysplasia,
Ollier
disease

Approach –

History –

Age at onset of deformity

Duration and time of exposure to sunlight

Dietary habits and quantity of milk intake

Past history of osteoarticular infection or trauma

Family history

Physical examination –

● Documentation of height and weight

● Examine the pelvis, knee and feet

● Rotational alignment (in particular, femoral anteversion and

external tibial torsion) and

● Ligamentous laxity should be assessed – Potentially

synergistic effect of these conditions on angular
malalignment.

● Localize the deformity in distal femur, knee or proximal

tibia – Deformity in the distal femur disappears on flexion

of knee (knee flexion test)

● Measure the inter-malleolar distance in standing position.

Radiographs –

Full length standing radiograph from hip to ankle with knee pointed
forwards - Measure the tibio-femoral angle, lateral distal femoral angle
(LDFA), medial proximal tibial angle (MPTA)
PHYSIOLOGICAL GENU VALGUM –

It is typically seen in children who are less than 7 years old, have
symmetric involvement of the lower extremities, and are of normal
stature. The tibio-femoral angle measures less than 15 degrees, and
the inter-malleolar distance is less than 8 cm. Gait is normal.

It does not require treatment.

PATHOLOGICAL GENU VALGUM –

Children with short stature, asymmetric involvement, or a tibio-

femoral angle greater than 15 to 20 degrees after age 4 years should
be evaluated and followed up clinically to rule out developmental or
metabolic causes.

If the tibio-femoral angle of more than 15 degrees or an inter-

malleolar distance of 10 cm persists after age of 10 years, spontaneous
correction is unlikely to occur, and operative treatment may be
necessary.

Treatment depends on the cause and severity of deformity

- Medical - endocrine/ nephrology consult

- Bracing

- Surgical – Guided growth in skeletally immature patients with more

than 2 years of growth left

- Corrective osteotomy in skeletally mature patients

 GENU VARUM
Physiological bowing
Definition
Levine and Drennan defined physiological bowing as radiological bowing of
>10° of bilateral femoral tibia vara noted after the age of 18 months

Natural History
- Bowing, though present in infants, may not be noticed until the child
begins to weight bear
- Bowing resolves , typically by 2 years of age
- Physiological valgus: develops between 3-4 years

Clinical features

- Brought by parents due to cosmetic appearances and associated

Complaints of tripping
- Family history is common
- Typically brought at 15-18 months –at time of weight bearing
- Examination may reveal both the lower extremities with in-toeing
- Very agile walkers , in spite of bowlegs
- Internal rotation permits :
- Contact of the foot with the floor on standing and,
- Maintains centre of gravity over the midline during walking
- Look for lateral thrust : characteristic of pathological bowing

Radiographs:
Less than 18 months
- Radiographs can help in documentation of deformity
- Does not help in distinguishing between physiological / pathological
More than 18 months
- Taken with child standing with patella pointing straight ahead
- Relative degree of varus noted by observing the shaft to shaft angle
between the femur and tibia
- Distribution of bowing in physiological bowing is uniform
- Distribution of bowing in pathological bowing is limited to proximal
tibia
- Symmetric flaring of tibia and femur in physiological bowing
Radiographic evaluation
- Radiographic distinction between physiological and Blounts – not
obvious at very young children
- Measuring the MD angle ( Metaphyseal –diaphyseal ) angle help
identify the location and severity of the deformity
- MD angle helps serve as a guide to differentiate infantile blounts with
physiological bowing
- Feldman and Schoenecker :
- MD angle :<10° - 95% probability to be physiological bowing
- MD angle : >16° -95% probability to be Blounts
- MD angle : 10°-16° - Need to follow up 1-2 years to assess if the
metaphyseal changes resolve
- If resolved : Physiological
- If not resolved : Blounts

Differential diagnosis
Bowing

Physiological Pathological
▪ Infantile tibia vara
( Blounts )
▪ Metabolic bone disease.
▪ Nutritional rickets.
▪ Skeletal dysplasia
▪ Neoplastic diseases

Infantile Blounts Disease

Definition
- Described by Walter Blount (1937)
- Progressive , pathological genu varum centred at the proximal tibia

Etiology
- Usually bilateral
- Multifactorial but related to mechanical overload in genetically
susceptible individuals
- Excessive medial pressure on the medial proximal tibial physis and
epiphysis causing osteochondritis, eventually leading to a physeal bar

Risk Factors
- Overweight children
- Early walkers
- African descent children

Pathoanatomy and Radiographic features

- Langenskiold (1952) identified 6 distinct radiographic stages
- Depicts the natural progression of untreated infantile blounts
- Stage and age important for prognosis
- Stage I and II : Irregular metaphyseal changes : reversible
- Stage III : Definite deformity in proximal tibial physis
- Stage IV: associated with early bar formation (vertical orientation)
- Stage V : Profound physeal cartilage disruption and abnormal growth
- Stage VI: Severe depression of articular cartilage

Langenskiold et al 1952

Physical examination
- Genu Varum with flexion deformity / Internal rotation deformity
- Bilateral usually in infants
- Often associated with internal tibial torsion
- Limb length discrepancy
- NO tenderness, restriction of motion
- Presence of lateral thrust
Radiographic features
Taken with patient standing with patella pointing straight ahead
Findings suggestive of Blounts
- Varus focussed on proximal tibia
- Severe deformity
- Asymmetric bowing
- Posteromedial sloping of proximal tibial epiphysis
- Progressive deformity
- Metaphyseal beaking
Measurements :
Check for Drennan angle ( Metaphyseal –diaphyseal angle )
- >16° high chance of being Blounts and progressing

Treatment
Non operative
Bracing with KAFO
- Should be considered for all children <2 years
- Langenskiold I and II
- Bracing must continue for at least 2 years for resolution of bone
changes
- If unilateral : outcomes are good
- If associated with obesity and bilateral : Outcomes are poor
Operative management
Indications
- Age >3years
- Not compliant with non operative management
- Obese , bilateral involvement

1) Proximal tibia varus correcting osteotomy

- Aim : to prevent progression to Stage IV ( physeal bar formation )
- Indicated : In stage III
- Osteotomy unloads the medial compartment and facilitates the growth
of the medial proximal physis
- Best performed < 4 years of age.
Complications
- Compartment syndrome
- Stretching of the peroneal nerve

2) Physeal bar resection and varus correcting osteotomy

- Langenskiold III and IV
- Marked obesity
- Ligamentous laxity
If physis is not closed – Hemi-epiphysiodesis with 8 plates, on the lateral
side
8 Plates are removed after slight over correction

3) Medial tibial plateau elevations and re-alignment osteotomy of

proximal tibia
- Langenskiold V-VI : Irreversible changes
- Occurs because medial physis is closed or so extensively involved that
epiphysiolysis will not help
- Depressed medial tibial articular surface + ligamentous laxity +distal
femur compensatory valgus deformity
- Aim: to correct the alignment and pathologic depression
-
- Procedure
- Osteotomy is started at the apex of the angulation of the medial
proximal tibia , following which the plateau is elevated using an osteotome.
- Defect is filled with a tricortical bone graft / segment of the fibula
- Concomitant lateral proximal tibia and fibula epiphysiodesis done
- Varus correcting tibial osteotomy done
- Distal lateral femur hemi-epiphyseal stapling done

ADOLESCENT BLOUNTS

- Develop varus deformity in late childhood or adolescence

- Typically present for evaluation of bowlegged deformity that develop
later in childhood
- Usually morbidly obese
- Involves both the proximal medial tibia and distal femur
- Develop varus deformity without medial joint depression.
- Distal femur deformity also more common in these groups

Pathoanatomy
- Affected growth plate will have abberations throughout the entire
physis with medial > lateral affliction
- Radiographic changes in metaphysis and epiphysis less than compared
to infantile blounts - because secondary ossification is larger and better
established in these older children
- Distal femur varus is common , because that physis also undergoes
excessive loading.
- Combination of varus, procurvatum and internal rotation results in a
complex three dimensional deformity of the proximal tibia
- As the tibial and femoral varus increases
- Lateral collateral ligament laxity occurs

Clinical Features
- Typical patient
- Adolescent , obese male patient with complaints of
- Bowing , knee pain , instability
- Check for lateral thrust
- Proximal tibial procurvatum deformity may produce a relative knee
flexion deformity 🡪 and complain of anterior knee pain

Operative goals
Problems to be addressed
- Varus deformity of proximal tibia AND distal femur
- Secondary compensatory valgus deformity of the distal tibia ( severe
cases )
Goal of surgery
- Restore normal anatomical orientation of knee and ankle
- Restore normal mechanical axis of the leg
- If limb length discrepancy : leg length inequality to also be addressed

Treatment
- No role for non operative management

1) Hemi-epiphysiodesis
Indicated if:
- Growth plate is still open
- Varus deformity not too severe

- Lateral tension band 8 plate hemiepiphysiodesis is preferred

 Once correction is obtained – staples removed to prevent
overcorrection
- Complete epiphysiodesis may be preferred to avoid loss of correction
by rebound
- Hemiepiphysiodesis does not allow rapid correction of deformity or
help in lateral laxity

2) Osteotomy
- Most patients with moderate to severe adolescent Blounts will require
it
- Indicated in skeletally mature patients
- Proximal tibia deformity should be corrected by redirectional
osteotomy
- Restoration of distal femur alignment with a distal femur varus
correcting osteotomy if DFLA >5° varus ( normal DFLA 87° )

3) Ring external fixator

- Gradual correction using a ring external fixator
- Suitable for Genu varum with tibial shortening
- Can do concomitant lateral collateral ligament tightening
- Benefit of addressing all deformities using a single procedure

CONGENITAL PSEUDOARTHROSIS OF TIBIA

INTRODUCTION:

Congenital pseudoarthrosis (CPT) is regaded as one of the most challenging

conditions in Orthopaedics, for the child, caregivers and the treating

surgeons.
The condition is not congenital in the true sense as the fracture and

subsequent pseudoarthrosis only develops later in life. Etiology for the

disease is not clearly understood, however the condition is commonly

associated with Neurofibromatosis 1.

· CPT is seen in 5% (2 – 6%) of cases diagnosed to have NF 1

· 50 % (40 – 80%) of the cases of CPT have NF 1

The incidence of CPT is 1:1,40,000 to 1:2,50,000 as reported by Hefti et al. in

2009. The ideal treatment protocol still remains elusive.

Note:

Diagnosis of NF 1

Any 2 of the 7 criteria confirm the clinical diagnosis

· Six or more café au lait spots or hyperpigmented macules > 5 mm

diameter in prepubertal and > 15 mm in postpubertal children.

· Axillary or inguinal freckles (> 2)

 · Two or more typical neurofibromas or one plexiform

neurofibroma.

· Optic nerve glioma

· Two or more iris hamartomas – Lisch nodules

· Sphenoid dysplasia / CPT

· First degree relative with NF 1.

Café au lait spots:

· Coast of California: Smooth outline, associated with NF 1.

· Coast of Maine: Rough border, associated with fibrous dysplasia.

PATHOLOGY:

Many theories have been put forward for the cause of CPT. Most of these theories

implicate the abnormal periosteum that surrounds the pseudoarthrosis site. The
hamartoma found at the pseudoarthosis site is responsible for the pathogenesis of

the disease.

The hamartoma is composed of fibrous tissue, fibrocartilage and hyaline cartilage

with evidence of endochondral ossification. This replaces the normal periosteum

and causes vascular constriction of bone and osteolysis. The high osteoclastic

activity with minimal osteoblastic activity of the hamartoma leads to abnormal

bone remodeling.

Cho et al. proposed that the response of periosteal cells in the hamartoma to

Bone Morphogenetic Protein (BMP) is reduced which leads to poor osteoblastic

response. Madhuri et al. found the mesenchymal stem cell from the hamartoma

had a greater proliferation rate but reduced differential potential compared to

their normal counterpart.

The net result being, tibia is mechanically weak and has poor osteogenic capacity.

Reactive sclerosis is also seen in the medullary canal.

NATURAL COURSE OF DISEASE:

As mentioned earlier, the pseudoarthosis is rarely present at birth, rather develops

later in the course of the disease.

The child does present with an abnormal anterolateral curvature of the tibia.

Unrestricted weight bearing on this deformed bone leads to progression of the

bowing and eventual fracture.

The main problems associated with CPT are anterolateral bowing which leads to

abnormal weight transmission across the tibia. Persistent pseudoarthrosis with

difficulty in obtaining and maintaining union adds to the challenge of

management. The proximal migration of distal fibula makes the ankle unstable and

leads to valgus deformity of the ankle.

Decreased tension on TA, leading to calf atrophy and eventual calcaneo-cavus foot

and dorsiflexion contracture of the ankle develop secondary to soft tissue changes.

Limb length discrepancy also results from the lack of loading and altered muscle

forces around the tibia.

CLINICAL MANIFESTATIONS:
 · Anterolateral bowing of tibia.

· Shortening of the affected leg

· Small foot

· Ankle deformities – valgus, calcaneus & dorsiflexion contracture

· Abnormal mobility at pseudoarthrosis site

· Signs of NF:

o Café au lait spots: 6 or more measuring more than 5 mm

o Axillary / inguinal freckles

o First degree relative with NF.

IMAGING TECHNIQUES:

CONVENTIONAL RADIOGRAPHS:

Are the most common modality to diagnose and prognosticate the disease.

Various classification systems have been described based on the changes seen on
radiographs. As the disease is progressive, the radiographs show heterogenous

changes.

Radiographic changes:

o Thin and atrophic tibia

o Widened and hypertrophic tibia

o Cupped proximal fragment

o Pointed distal fragment

· Fibular involvement

CLASSIFICATIONS:

BOYD’S CLASSIFICATION:

TYPE 1: Anterior bowing of tibia + defect present at birth

TYPE 2: Anterior bowing + hourglass constriction of the tibia

Most common and most severe form

 Fracture occurs spontaneously or after minimal trauma

Tibia is tapered, rounded and sclerotic

Most commonly associated with NF

Fracture rate decreases with increasing age

TYPE 3: Pseudoarthrosis develops in congenital cyst

At the junction of middle and distal third

Less frequent recurrences – excellent prognosis

TYPE 4: Pseudoarthosis develops in sclerotic segment of bone

No narrowing of the tibia

Starts as a stress fracture and progresses

Good progrosis

TYPE 5: Tibial pseudoarthrosis with a dysplastic fibula

Good prognosis if lesion confined to fibula

 Natural history similar to type 2

TYPE 6: Pseudoarthrosis associatd with intraosseous neurofibroma

Extremely rare

Prognosis depends on aggressiveness of the lesion.

CRAWFORD’S CLASSIFICATION

TYPE 1: Preserved medullary canal

Cortical thickening at the apex of the deformity

TYPE 2: Thinned medually canal

Cortical thickening and trabeculation defect.

TYPE 3: Cystic lesion in tibia

Early fractures seen.

TYPE 4: Presence of tibial and fibular non union.

POOR PROGNOSTIC FACTORS:

 · Neurofibromatosis

· Age at fracture < 3 years

· Previous failed surgeries

TREATMENT:

PREFRACTURE:

This is the stage of the disease with just anterolateral bowing of the tibia without a

fracture. The goal in this stage is to prevent the occurrence of the fracture.

Fracture occurs when the body mass exceeds the tolerable mechanical load of the

abnormal tibia. Early age of fracture is associated with poor prognosis.

The most commonly used modality in this stage is bracing with a “Clamshell”

orthosis. The orthosis has an anterior “clamshell” which applies an anterior force

on the tibia preventing the progression of the anterior bowing of the tibia.

Bisphosphonates are commonly used in conjugation with bracing as they reduce

osteoclastic activity thereby improving bone density. There is ongoing research in

the use of Bone Morphogenetic Protein 2, as it is found to increase bone formation

in animal specimens.

Recent description of growth modulation of the distal tibia using 8 plates to

correct the anterolateral bowing of the tibia in the prefracture condition has also

shown promising results in prevention of fractures.

McFarland Bypass Grafting:

This procedure involves placing a strut graft from the ipsilateral fibula across the

anterolateral bowed tibia. The graft lies in along the mechanical axis of the leg,

thereby bypassing the abnormal tibia. This method showed good results in a study

by Ofluoglu et al. The procedure is supplemented by long term bracing as well.

SURGICAL OPTIONS:

Surgical management is the mainstay once there is established pseudoarthrosis.

The choice of ideal surgery is controversial as no single technique has shown

superior results.

Complications commonly seen after surgeries are:

 o Nonunion (Union rates: 31 – 100 %)

o Refractures

o Multiple surgeries

o Limb Length Discrepancy

o Angular deformity

· Principles of surgery:

o Complete excision of diseased periosteum and hamartoma

o Stable fixation with accurate alignment

o Bone grafting

o Protected weight bearing till skeletal maturity

There are numerous surgical techniques described in literature for the

treatment of CPT. There are however 4 primary methods of treatment:

· Internal fixation using intramedullary rod

 · External fixation, primarily Ilizarov fixator

· Combination of IM rod and Ilizarov

· Vascularized fibula

INTRAMEDULLARY RODS:

This modality of treatment was first described by Chanley in 1956.

Successful union at the pseudoarthrosis site has been documented in 75 –

80 % of the cases in studies by Johnston et al. and Dobbs et al.

It is a simple, cost effective and easily reproducible technique of fixation. It is

commonly used with adjuncts to aid in union, viz, autologous cancellous

bone grafting, BMP and bisphosphonates.

Many authors have described crossing of the tibiotalar and subtalar joints

with the intramedullary devices to aid in the stability of fixation, however

the long term effects of this are still unknown. The influence on union rates

with this method are also not described in detail in literature. A

retrospective study by Lehmann et al. however showed comparable union

rates between techniques transfixing the ankle joint and those not doing so.

The intrameduallry device needs to be maintained till skeletal maturity even

after attaining union as the tendency to refracture increases with removal of

the implant after union. The added benefit of the IM device is that, even if it

fails to achieve union, it acts as an internal splint.

· EXTERNAL FIXATOR

Circular fixators have been used in the treatment of CPT since the advent of

Ilizrov fixator in the 1980’s. This modality has the added advantage of

addressing the length, rotations and alignment. The frame also provides

good amount of stability despite the amount of tissue resected.

The constructs however are poorly tolerated by young patients and have

problems of pin tract infections, loosening, joint stiffness and peroneal

nerve neuropraxia. Ilizarov is used as an adjunct treatment to intramedullary

fixation and bone grafting.

The ring fixator is commonly used in children above the age of 8 years and

those who have significant limb length discrepancy. Lengthening is done by

a corticotomy done at the proximal tibia. The high rates of refracture

following use of external fixator for union is addressed by the addition of a

intramedullary nail.

· VASCULARIZED FIBULAR GRAFT

Described by Weiland et al., in which the contralateral vascularized fibula

was extracted and its vascular pedicle attached to the posterior circulation.

The reported rates of union were 60 – 88 %, with most cases requiring

another additional procedure.

Vascularized fibula is considered when there is significant limb length

discrepancy and length of resection is large. Simonis et al. recommend the

use of this technique if length discrepancy is > 5 cm and length of diseased

segment is > 3 cm. Complications include new onset fractures, malalignment

and ankle valgus at the donor site.

Charnley Williams technique utilizes an intramedullary rod in conjunction

with vascularized fibula graft. The IM rod provides tibial alignment and

protects against fracture while the fibula provides the osteogenic potential

which aids in graft union.

The limitations of this technique being cost, technical complexity, frequent

refractures, failure to correct limb length discrepancy and deformities at the

time of index surgery.

· SPECIAL TECHNIQUES

o Benjamin Joseph’s triple onlay cortical grafting: cortical graft

obtained from contralateral tibia. Anterior cortex taken in isolation

and the graft is placed in the gap of the resected pseudoarthrosis

under tension. Intramedullary stabilization done with a rush rod.

o Choi’s 4 in 1 technique: Cross union between four ends of tibia and

fibula using a cortico-cancellous sheet from the inner table of the

ilium and additional bone graft.

 o Paley’s technique: Combined pharmacological and surgical

management.

§ Pre-operative Zoledronic acid

§ Hamartoma resection

§ Rodding of tibia and fibula

§ Periosteal grafting around the tibia

§ Cancellous bone grafting between the tibia and fibula

§ BMP 2.

· ALGORITHM – adapted from

Shah H et al.. Congenital pseudarthrosis of the tibia: Management and
complications. Indian J Orthop 2012;46:616-26.
 · AMPUTATION:
o Reserved for cases of resistant pseudoarthrosis.
o Persistent non union
o Dysfunctional extremity
o Symes or Boyd type amputation performed
o Children tolerate prosthesis extremely well

COMPLICATIONS:
· Refracture:
o 14 – 60%
o Anatomical alignment minimize risk
o Rodding of tibia and external bracing prevent it.
· Malalignment:
 o Progressive and do not remodel
o Prevented by retaining the im rod
o Corrected by osteotomy through normal tibia.
· LLD:
o Contralateral epiphysiodesis (< 5 cm LLD)
o Proximal tibial lengthening (> 5 cm LLD)
· Ankle valgus:
o Prevention: Langenskiold procedure
o Supramalleolar osteotomy (after growth completion)
o Distal tibia medial hemi-epiphysiodesis (growth remaining)

FIBULAR HEMIMELIA

INTRODUCTION:

Fibular hemimelia is the most common congenital limb deficiency in which a

part or whole of the fibula is hypoplastic, dysplastic or aplastic. This disorder

encompasses a wide spectrum of abnormalities affecting the femur, knee

tibia, ankle and foot.

The phenotype is variable ranging from mild to severe limb length

discrepancy, ankle and foot deformities, midfoot coalition and absent rays.
They are also associated with femoral hypoplasia/dysplasia, knee ligament

deficiency and knee valgus deformity.

These are commonly referred to postaxial deficiency and vary in pattern

from preaxial deficiency such as tibial hemimelia. The incidence of the

disorder is 1:135000 and 1:50000. The precise cause of Fibular Hemimelia is

unknown and in most cases the deformity occurs sporadically. However if

associated with deficiency in more than one limb, it can either be an

autosomal dominant inheritance pattern or related to a teratological agent.

ETIOLOGY:

The etiology of fibular hemimelia remains unclear and most of the cases

occur sporadically. However, autosomal dominant, recessive and X linked

transmission have also been reported.

Graham et al suggested an exogenous vascular or mechanical interference

with limb bud function in the embryonic apical ectoderm. Hootnick et al

suggested the persistence of embryonic vascular pattern as a cause for the

deformity. He noted the failure of formation of plantar arch, absence of

anterior tibial artery, absence of normal trifurcation of the popliteal artery

at the knee and the persistence of a single large posterior artery in the leg.

Lewin and Optiz introduced the theory of developmental fields defect which

explained the associated anomalies in fibular hemimelia. They theorized

that the fibula controls the development of the lateral aspect of the foot,

ACL, proximal femur and acetabulum, patella and pubic bone.

PATHOLOGY:

1. Limb length discrepancy:

In this condition, there is an inhibition of growth of the tibia and the foot.

Some cases also have congenital femoral deficiency which further

contributes to the shortening. The discrepancy can vary from mild to very

severe with length discrepancy being > 30 cm at skeletal maturity.

2. Foot and ankle deformities:

There are multiple components to foot and ankle deformities in Fibular

Hemimelia and are seen in the hindfoot and midfoot to varying degrees.
In the ankle, the dysplasia is seen in the distal tibia and talus which

ranges from mild ankle valgus to flat malformed, maloriented joint

surfaces.

Distal tibia: The tibial plafond varies from normal to valgus and

procurvatum with the articular surface concave in the frontal plane.

Talus: The articular surface ranges from normal to ball shaped in the

frontal plane and from round to nearly flat in the sagittal plane with a

short talar neck.

Ankle joint: The joint movement ranges from normal to limited range of

motion with instability (varus/valgus) and fixed equino-varus/valgus

deformity.

Subtalar joint: The joint may range from normal to subtalar coalition. The

coalition is usually of the posterior facet and is malunited to equnio-

valgus. A small minority malunites to equnio-varus

· Equino-valgus deformity: Combination of malunited coalition,

ankle valgus deformity and maloriented distal tibia. This can be

 caused by contractures of the Tendo-Achilles and peroneal

tendons.

Midfoot abnormalities: These are most commonly related to coalition

between cuboid and calcaneus and to a lesser extent between the

talus and navicular. Missing rays also make the foot narrower.

Syndactyly is also seen in many children.

3. Tibial deformity:

The tibia shows a mild to severe deformity, commonly being valgus

procurvatum. The fibular anlage is seen as a thick fibrocartilaginous

remnant which tethers the growth of the tibia on the postero-lateral

aspect which contributes to the pathogenesis of the deformity.

4. Knee instability:

Fibular hemimelia is associated with hypoplasia or aplasia of ACL and/or

PCL. This condition is asymptomatic when the child is young but becomes

symptomatic as the child becomes taller and puts on weight. In severe

cases, anterior subluxation of the tibia is also seen.

CLINICAL MANIFESTATIONS:

The clinical manifestations are a spectrum and vary with the severity of the

disease.

In mild disease:

· Femoral shortening

· Tibial shortening

· Genu valgum

· ACL deficiency

· Tarsal coalition

In some cases, there are features of the spectrum with a normal sized fibula.

· Missing lateral rays of foot

· Ball and socket ankle with tarsal coalition

· Clubfoot deformity
In severe deficiency,

· Anterolateral bowing of tibia

· Equinovalgus deformity of the foot

· Tarsal coalition

The valgus deformity of the ankle is attributed to the following:

· Articular surface of the tibia faces laterally and posteriorly

· Distal tibia epiphysis is wedge shaped and narrow laterally

· Tibio talar articulation is in valgus

CLASSIFICATION:

ACHTERMAN AND KALAMCHI CLASSIFICATION:

It is the most common classification system. The disease is classified based on the

degree of fibular deficiency.

Type I: Presence of any part of the fibula

IA: Proximal fibular physis is distal to the proximal tibial physis

Distal fibular physis is proximal to the dome of the talus

Tibial discrepancy: 6%

Total limb length discrepancy at maturity: 12%

IB: Fibula is 30 – 50 % shorter than normal

Distal fibula does not form the ankle mortise

Tibial discrepancy: 17%

Total limb length discrepancy at maturity: 18%

Type II: The fibula is completely absent.

Tibial discrepancy: 25%

Total limb length discrepancy at maturity: 19%

BIRCH CLASSIFICATION:

This classification system takes into account the total limb length discrepancy and

foot deformity thereby help making management decisions.

A functional foot is defined as one which can be made plantigrade and has at least

3 rays.

PALEY CLASSIFICATION:

This classification system keeps in mind the reconstructive procedures and is based

on the pathoanatomy and the deformities at the ankle and subtalar joints. The

stage specific intervention is independent of the number of rays on the foot and

limb length discrepancy.

Type 1: Stable ankle with short fibula at the proximal end.

Type 2: Dynamic valgus noted on weight bearing but foot correctable to

plantigrade position.
The fibula is short at the distal aspect and a ball and socket ankle is seen. There is a

limited dorsiflexion but no equinus contracture.

Type 3: Fixed equino-valgus deformity

· A: Ankle type – caused due to maloriented ankle joint as a result of

valgus and procurvatum deformity of the distal tibial physis.

· B: Subtalar type – caused by a malunited subtalar coalition in which the

calcaneus is located lateral and is in valgus with respect to the talus.

· C: Combined type.

Type 4: Fixed equino-varus deformity

The tarsal coalition is malunited in varus with the distal tibial physis in valgus and

procurvatum. It is resistant to treatment with Ponsetti technique as well as soft

tissue releases routinely performed for CTEV.

MANAGEMENT:

The choice of management options in Fibular Hemimelia is between complex limb

reconstruction and amputation and the use of an extension prosthesis. The factors
influencing the choice of management depends on the limb length discrepancy at

maturity and the condition of foot and ankle of the affected limb.

· Limb length discrepancy of > 30% or >5cm at birth, severe ankle valgus

and deformed foot – Amputation

· Limb length discrepancy < 30%, stable ankle and foot with at-least 4 rays

– Limb reconstruction.

· Foot preservation is to be considered in all cases with nonfunctional

upper limbs.

The best results are obtained when the treatment is initiated when the child is

young, i.e, at the beginning of walking age.

MANAGEMENT OF LIMB LENGTH DISCREPANCY:

· Orthosis and epiphysiodesis

It is the treatment of choice for mild forms of the disease. It is to be

considered when there is a functional plantigrade foot and the limb length

inequality at maturity is < 6%.

A timed contralateral epiphysiodesis helps obtain limb length equality.

· Limb lengthening

Distraction osteogenesis is widely described for the limb length equalization

in this condition. In case of severe deformity, multiple lengthening

procedures are required.

The first lengthening is usually done when the limb length discrepancy is 5 –

6 cm and the second is done during adolescence when the discrepancy is

around 7 cm. The final lengthening if needed is done at skeletal maturity.

The addition of a contralateral epiphysiodesis helps supplement the

lengthening for equalizing limb length.

In cases with complete absence of fibula, some authors have recommended

the removal of the fibular anlage at the time of the first lengthening surgery,

which is done preferably at the end of the first year of life.

· Amputation:
Both Boyd and Syme amputation have been used widely in the management

of this condition.

o Syme: Ankle disarticulation with heel pad covering the distal tibial

epiphysis. Can be complicated by posterior migration of the heel

pad.

o Boyd: Ankle disarticulation with calcaneus is fused to the distal

tibia. The advantage being the calcaneus adds to the limb length

and the posterior migration of the heel pad is prevented.

To avoid interference with the normal development of the child, the

amputation must be performed at a time when the child attempts to walk,

thereby permitting a good prosthetic fitting when the child starts to walk.

In case of problems with prosthetic fitting, the lengthening of the

amputation stump can be done. The correction of the anterior bow of the

tibia after amputation remains a controversy, with a majority of authors

suggesting a prosthetic adjustment to deal with this problem.

 Before the decision of an amputation is made, it is important to involve the

child in the decision making process.

MANAGEMENT OF GENU VALGUM

The genu valgum deformity in the disease is progressive and is attributed to

the degree of lateral femoral condyle hypoplasia and tibial angulation. This

deformity interferes with the normal gait pattern and prosthetic fitting in

children who have undergone amputation.

In a valgus knee, there is increased pressure over the lateral compartment.

The result of this is an inhibition of growth in the lateral half of the

epiphysis: Heuter Volkmann Law.

The deformity is managed with growth modulation during the period of

growth with temporary hemiepiphysiodesis of either medial proximal tibia

or distal femur.

MANAGEMENT OF KNEE INSTABILITY

 The reason for knee instability is related to the congenital absence of ACL,

however, most of the children are asymptomatic. In a study by Crawford et

al., there was no difference in long term outcomes between children in

fibular hemimelia with deficient ACLs and age matched groups. Therefore

most authors do not recommend a routine reconstruction of ACL in children

with knee instability unless they are symptomatic and it compromises their

activities.

ANKLE AND FOOT RECONSTRUCTION

Equnio-valgus deformity of the ankle and ankle instability is caused due to:

· Lack of lateral malleolus

· Tight lateral fibular anlage

· Tight TA

· Wedge shaped distal tibial epiphysis.

These abnormalities worsen and pose difficulty after limb lengthening. Many

surgical procedures have been described to achieve a stable ankle with a

plantigrade foot with varying degrees of success.

· Soft tissue balancing with reconstruction of lateral malleolus with bone

blocks – complicated by failure of the bone block to incorporate and

deformity to recur as the child grows.

· Reconstruction of the lateral malleolus with vascularized fibula from

contralateral side – complicated by donor site morbidity.

· Gruca procedure: Described by Thomas and Williams, involves a

longitudinal oblique tibial split, which gives the talus a lateral buttress.

· Tibial metaphyseal osteotomy described by Exner, which redirects the

posterolateral third of the tibial epiphysis and forms a concave distal

tibial joint surface.

· El-Tayeby and Ahmed have shown that a posterolateral soft tissue

release along with advancement and fixation of the fibular anlage, to

recreate the lateral malleolus, has shown promising outcomes.

· PALEY’S PROCEDURES:

o SHORDT: Shortening Osteotomy Realignment Distal Tibia

This involves a complex osteotomy, which redirects the ankle and

corrects the valgus deformity.

Tibial shortening is also done such that the fibular remnant acts as the

lateral malleolus.

o SUPER ankle: Systematic Utilitarian Procedure for Extremity

Reconstruction

This is a complex procedure that involves TA and peronus brevis

lengthening, resection of the fibular anlage, subtalar redirection

osteotomy, tibial shortening and redirection osteotomy.

A Taylor spatial frame is used subsequently for lengthening of the tibia.

 TIBIAL HEMIMELIA

INTRODUCTION:

This is a congenital disorder which encompasses partial to complete deficiency

of tibia. The etiology of the disease is truly unknown; however, some autosomal

dominant hereditary patterns have been described.

Four distinct autosomal syndromes have been described with tibial hemimelia,
viz,
o tibial hemimelia–foot polydactyly–triphalangeal thumbs syndrome (Warner
syndrome),
o tibial hemimelia diplopodia syndrome,
o tibial hemimelia–split hand and foot syndrome,
o tibial hemimelia–micromelia–trigonobrachycephaly syndrome
Incidence is 1 in one million live births and may be bilateral in 30 % of the cases.
60 % of the cases are associated with other congenital anomalies.

Associations

Cleft lip and palate

Severe clubfoot

Ectrodactyly (split hand or foot)

Polysyndactyly

Foot oligodactyly

Anonychia

Ulnar and fibular reduplication

Radial synostosis

Radial ray agenesis

Micromelia

Trigonomacrocephaly

Diplopodia

Bifid femur

Joint hyperextensibility
 Deafness

CLASSIFICATION:

JONES CLASSIFICATION:

Type 1:

The tibia is not seen on radiographs at birth

Subtype A: Distal femoral physis is absent or small

Subtype B: Distal femoral physis is normal and the proximal tibia is

cartilaginous.

Type 2:

Proximal part of the tibia is present and ossified.

Distal tibia is absent

Type 3:

Distal part of the tibia is present and ossified.

Proximal tibia is absent.

Amorphous osseous structure forms and rudimentary knee ankle articulation

forms.
 Type 4:

Tibia is short and distal tibio-fibular diastasis is seen.

Distal tibial articular surface is absent.

Proximal displacement of talus.

WEBER CLASSIFICATION:

Divided into 7 main groups. 5 of them are subdivided into ones with the tibial

anlage and ones without. The higher the number, the lesser the severity of the

disease.

It includes some of the less common variants and is more useful relative to the

treatment options

CLINICAL FEATURES:

Dimple may be present in the region of the proximal tibia. It is commonly

associated with other congenital anomalies which also need to be assessed

thoroughly.

Jones IA:

o Knee flexion contracture

o Knee is placed proximal and lateral to the femoral condyles

o Hamstrings acting, quadriceps inactive.

o Patella absent

o Foot in severe varus with minimal useful movement.

Jones IB and II:

o Variable length of the tibia palpable.

o Hamstring and quadriceps functioning normally.

o Knee movement is normal,

o Fibula migrates proximally and laterally.

o Knee in varus with varus instability.

o Foot displaced medially wrt fibula and in varus.

Jones III:

o Unstable knee.

o Variable length of the tibia palpable distally.

o Polydactyly

o Varus deformity of the leg.

Jones IV:
o Limb is moderately short.

o Foot is in severe rigid varus.

o Foot between tibia and fibula.

USG and MRI are used as advanced imaging to define the cartilaginous anlage

and also assess the soft tissue structures around the knee and ankle to plan the

treatment.

TREATMENT:

Jones I:

The treatment of this is a topic of controversy with the options being trans-knee

amputation and reconstruction using ipsilateral fibula – Brown’s procedure.

Brown described the procedure for limb reconstruction in tibial hemimelia in

1965. This involves centralization of the fibula in the intercondylar notch.

The surgery is preferably performed before the age of 1 year for maximal

ambulatory potential and better fibula union.

Indications:

1. Child with ability to walk

2. Passive knee extension possible

3. Functioning quadriceps.

As many studies have failed to recreate the success of Brown’s surgery, a trans-

knee amputation has been advocated. This has good functional results with

modern prosthesis and also the complication of stump overgrowth is avoided.

Jones II:

The most common approach for this subclass of tibial hemimelia is proximal

tibio-fibular synostosis with ablation of the foot with a Boyd, Chopart or Syme

amputation.

The tibio-fibular synostosis can be done either side to side or end on and the

foot ablation is performed in the same sitting. If the proximal tibia is not

ossified, the synostosis is delayed.

The common complications following the surgery are progressive varus of the

knee, dynamic varus due to ligamentous instability and prominence of the

proximal fibula. The varus deformity can be managed by proximal fibula

epiphysiodesis and the prominence by excision of the fibula.

Reconstructive surgery can also be done and it involves the following steps:

o Foot deformity correction with serial casting / surgery.

 o Proximal tibio-fibular synostosis

o Talo-fibular arthrodesis

o Fibular lengthening.

- The patient and the family must be committed for multiple procedures and a

good functional outcome is not always guaranteed.

Jones III and IV:

- Noted to have divergence and instability of the distal tibio-fibular joint. In these

subclasses, the reduction of the diastasis is paramount. This can be done by soft

tissue reconstruction or Ilizarov assisted repositioning of the talus under the

tibia. Talectomy has also been described.

- Distal tibio-fibular synostosis and correction of foot deformity, either by serial

casting and soft tissue releases or foot ablation are also included in the

treatment protocol.

CONGENITAL VERTICAL TALUS

(Congenital Convex Pes Valgus/Congenital rocker-bottom feet/ dorsolateral
dislocation of Talo-Calcaneo-Navicular joint)

◦ Rare disorder - 1 : 150,000

◦ Male to Female - 2:1

◦ 50% bilateral

• 50% associated with other disorders

• Associations – Arthrogryposis Multiplex Congenita (AMC), Cerebral
palsy, Meningomyelocoele, Neuromuscular disorders, Syndromes - Edward,
Patau, Freeman Sheldon, Multiple Pterygium syndrome, Costello.

• Etiology - Muscle imbalance, vascular abnormality, genetics.

Pathoanatomy -

Soft Tissue:

Contractures of Tibialis anterior, EHL, EHB, peroneus tertius, peroneus

longus, peroneus brevis and the Tendo Achilles are present. Contracted talo-
navicular capsule. Tibialis posterior and peronei are subluxed anteriorly.

Bony :

Navicular is displaced both dorsally and laterally with respect to the head and
neck of the talus. The Talar head and neck are flattened and medially
deviated. Talus is vertically oriented, Dorso-lateral subluxation or dislocation
of the calcaneo-cuboid joint. Calcaneum is in equinus.

Deformities:

Hindfoot equinus and valgus.Forefoot abduction and dorsiflexion. Prominent

palpable talar head in the plantar aspect.

Differentials:

• Oblique talus - only conservative management.

• Tarsal coalition - commonest - talocalcaneal.

• Calcaneovalgus foot.

• Posteromedial tibial bowing.

Radiology: Lateral image

Lateral Image:

• Talus is vertical
• The long axis of the talus passes
below the 1st metatarsal-
cuneiform axis.
• Meary angle >20

• AP image: Talo-calcaneal angle

>40

Forced plantar flexion - oblique talus

reduces in forced plantar flexion.

Forced dorsiflexion - reveals the equinus.

Why treat CVT?

• Neglected CVT has callosities on the medial border of the foot around
the head of the talus, Forefoot - rigidly abducted and the heel does not touch
the ground.

• Hard to wear closed footwear

• Pain is inevitable

Treatment options:

Always needs surgical correction.

Serial manipulations and casts/ Surgery.
Surgical –
One staged
Two staged
NEWER TECHNIQUE - DOBB’S METHOD- CASTING + MINIMAL
SURGERY.

Approach – Dorsal/ Posterior

Surgery - Upto 3 years – Open reduction + k -wire
4 – 8 years - Open reduction + extra-articular arthrodesis

>8 years - Triple arthrodesis

Conventional treatment approaches - One – stage, Two – stage, Cinncinati

incision/ posteromedial incision, Dorsal incision, Multiple incision

DOBBS METHOD Reverse Ponseti Casting

• Care is taken to mould underneath the head of the talus and around the
malleoli.
 Foot - held in the desired position as the cast is applied and not manipulated
after the plaster is rolled - avoids pressure sores.

Long leg cast with the knee in 90 of flexion.

Four to six plaster casts changed weekly.

Post casting

If talonavicular well reduced- percutaneous kwire fixation, percutaneous TA

tenotomy . foot to be kept in planter flexion and inversion

If talonavicular not reduced- small 2cm medial incision , talonavicular and

subtalar capsule is opened folowed by elevation of the talus with a elevator.

Lateral foot radiograph - reduction of the talo-navicular joint. Reduction is

confirmed indirectly by the talar axis-first metatarsal base angle

LAST CAST -

Maximum plantar flexion and Inversion

Stretch the foot into plantar flexion and inversion with one hand

Post surgery protocol

2weeks- change cast with 10-20 degree dorsiflexion, take mould for brace
and again change cast after 3weeks with ankle in neutral

6 weeks- remove k wires, physiotherapy (plantiflexion and inversion), brace

similar to CTEV but feet are in neutral

upto 7years- review every 3 months for 2years, every 6months for 7 yearsm
yearly till skeletal maturity

● Soft tissue releases

● If there is tight Tendo Achilles- Tendo Achilles tenotomy is done to

get ankle dorsiflexion of 5 degree.

● Plantiflexion <25 degree- fractional lengthening of EDC

● Forefoot adduction <10 degree- fractional lengthening of peroneous

brevis

• Talectomy in resistant case

• Triple arthrodesis is a salvage procedure.
 CONGENITAL TALIPES EQUINO VARUS

1. Incidence: 1 to 2 in 1000 live births , M:F - 2:1.

2. 50% bilateral involvement.

3. 20% may be associated with other packaging disorders - should have

hips screened for DDH.

Etiology: Idiopathic, neuromuscular, syndromic, postural

Idiopathic clubfoot: Single musculoskeletal deformity in an otherwise

normal infant.

Theories: An arrest in embryonic development, genetic factors, arrest in fetal

development, refractive fibrotic response, primary germ plasm defect in the
cartilaginous talus anlage.

Pathoanatomy:

A. Bony

Talus: medial and plantar deviation of anterior end, short talar neck, small
body, absent or fused anterior and medial facet.

Medially rotated and supinated within the mortise. (Neck -body axis - 60deg)

Calcaneum: small but normal contour, underdeveloped Sustentaculum Tali,

anterior articular facet of Calcaneum is medially deviated and deformed.
Calcaneus is found internally rotated or pronated.

Navicular and Cuboid: Displaced plantarwards and medially on the talar

head. Cuboid is displaced medially on the anterior end of calcaneum.

B. Soft Tissue:

Cavus - tight FHL, FDL and intrinsics.

Adductus(Forefoot) - Tibialis posterior tightness.

Varus - Tight Tendo Achilles, Tibialis posterior and Tibialis Anterior,

contracted subtalar capsule.

Equinus - Tight TA and ankle capsule.

7. Postural clubfeet: Fully or nearly fully correctable passively, absence of

deep skin creases, no atrophy and rigidity. Self limiting and may need one or
two casts.

8. Associations: Syndromes: Down’s, Larsen, AMC, Diastrophic dysplasia,

Mobius, Freeman - Sheldon syndrome, fetal alcohol syndrome.

9. Non operative treatment: Methods : 1. Kite’s. 2. Ponseti. 3. French.

KITE ’S METHOD PONSETI METHOD

1. Kite advised correcting each

1. Ponseti believed in correcting
component of deformity before
all deformities simultaneously
proceeding to next

2. Forefoot adduction - heel varus 2. CAVE acronym. Cavus is

and equinus in order. Forefoot corrected in first cast and forefoot
should be overcorrected into mild adduction, varus are corrected
flatfoot. simultaneously and equinus last.

3. Kite ’s results were not 3. Ponseti results highly

reproducible reproducible

4. Takes long time ( 26 - 49

4. Takes short time ( 5-6 weeks)
weeks)

5. Kite’s error - fulcrum of 5. Fulcrum of manipulation is at

manipulation is at calcaneo- talus.
cuboid joint
10. Ponseti method:

• Current standard of care

• Based on the viscoelastic nature of newborn feet.

• Success rate best before 9 months.

• Technique - stretching + manipulation + applying holding casts

• Stretch and correct by manipulation for 1-3 minutes and maintain

correction for 5 - 7 days with plaster cast extending from toes to upper third
of thigh in 90 degrees of knee flexion. 5-6 casts on an average are required.

• First the cavus is corrected by forefoot supination relative to the

hindfoot.

• Successively metatarsus adductus and hindfoot varus are simultanously

corrected by abducting the foot with counter pressure over the talar head. Do
not correct equinus before correcting adduction and varus to prevent
rocker bottom feet. Correct it only when hindfoot is in neutral to slight
valgus and foot is abducted to 70 degrees relative to leg.

• To facilitate rapid correction of equinus, percutaneous tendoachilles

tenotomy can be done.

• After last cast, Foot Abduction Brace (Dennis-Browne splint) is

prescribed to prevent recurrence. 70 degrees of external rotation and 5-10
degrees of dorsiflexion. Unilateral cases - unaffected side 40 degrees of
external rotation.

- 23 hours till the child starts walking

- Night and Nap time till 2.5 to 3 years with regular follow up .

.
• Radiology:

- Often not required or taken.

- In resistant or relapsed forms.

- Hind foot parallelism - talo-calcaneal angle <20.

- In AP view talo-calcaneal angle (Kite’s) < 20

• Surgical treatment:

Indications : Resistant, relapsed or late presenting stiff clubfeet.

• Better performed after 6 months of age due to anaesthetic risks.

• Soft tissue releases - Turcos, Caroll, Goldner, McKay, Simons.

Medial
Posterior Lateral

• • •

Tibialis posterior Z Z lengthening of Calcaneocuboid

lengthening Achilles tendon joint capsule

•
• •
Talonvicular joint
opened up dorsally, Capsulotomy of Calcaneofibular
medially and ankle joint, ligament
inferiorly,
 •
• •
Capsulotomy of
Z lengthening of Peronei Z
subtalar joint,
FHL, FDL lengthening

• spring ligament

•
DO NOT RELEASE:
Master knot of
Henry release 1. Deep deltoid ligament
2. Interosseus talocalcaneal ligament

3. Interosseus tibiofibular ligaments

• Abductor hallucis

• Complications: 1.Loss of correction - wound /cast complications,

loose/inadequate cast 2. Dorsal subluxation of Navicular, 3. Valgus
overcorrection. 4. Dorsal Bunion

• Anterior Tibialis transfer - entire. In case of dynamic inversion or

supination of midfoot. Eliminates dynamic supination of the foot.

• Bony surgery - Lateral column shortening: Cuboid decancellation,

Evans, Lichtblau. Combined lateral column shortening with medial column
lengthening (Fowler’s procedure) - used in recurrent clubfeet. Attempt to
abduct and externally rotate the forefoot in relation to the hindfoot.
• Calcaneal osteotomy: (Dwyer) - used in fixed heel varus. Beware of
wound issues.

• Supramalleolar osteotomy: In-toeing gait, internal foot progression

angle

• Triple Arthrodesis: Salvage option in late presenting children beyond

10 years. Produces stiff, plantigrade foot. Also used for overcorrected valgus
feet or varus feet.

• Ilizarov Technique: multi- planar correction using hinged soft tissue

distraction between a tibial frame and foot frame, Combined with minimal
soft tissue releases prior to frame application. Hold in corrected position for 2
to 3 months. Subtalar and ankle stiffness. Pin tract infection.

• Joshi’s External Stabilization System (JESS) Fixator is also widely

used.
PIRANI SCORING SYSTEM FOR GRADING CLUBFOOT
 ELBOW

Interpretation of 3 bony point relationships:

The olecranon, lateral and medial epicondyle form a near equilateral

triangle in 90* elbow flexion.

Decreased length of medial limb: Postero-medial dislocation, medial

rotation of # fragment
Decreased length of lateral limb: Postero-lateral dislocation, lateral rotation
Increased length of medial limb: # medial epicondyle/condyle
Increased length of lateral limb: # lateral condyle
Increased base (inter-condylar distance): Malunited inter-condylar fracture
humerus

SUPRACONDYLAR FRACTURE HUMERUS/CUBITUS VARUS

They account for 50% to 70% of all elbow fractures and are seen most
frequently in children between the ages of 3 and 10 years, Peak age being 6-
7 years .
The peak age is at 7 years .

Mechanism:

Fall on a extended elbow- the olecranon is pushed into its fossa, which
transmits all the bending forces to the supracondylar area.

Factors contributing :

● The cortices are very thin and the metaphyseal bone is weak in
this area
● The bone is actively undergoing remodelling at this site during 6-
10 yrs
● The capsule is tight anteriorly and hinges the olecranon tip against
the fossa.
2 major subtypes:
● Extension type (90-95%).
● Flexion type (1 – 5%)
GARTLAND CLASSIFICATION :
dictates the method of treatment based on stages of displacement of
fracture

Type 1 – Undisplaced #. Anterior and post fat pads are elevated.

Mubarak subclassification
1A-Truly undisplaced, no comminution, angulation, or collapse
1B- comminution or collapse of the medial column in the coronal
plane and may have mild hyperextension in the sagittal plane
Results in acceptable functional outcome.

Type2 – Incomplete # with some posterior cortical integrity remaining. The

integrity is usually sufficient to prevent rotation of distal fragment when
elbow is hyperflexed.

Type3 - complete # with displacement. Both cortex are fractured but one
periosteal sleeve is intact .Has higher risk of neuro- vascular injury and
irreducibility.

Wilkins subdivision
3a. posteromedial( medial periosteal sleeve is intact) and
posterolateral( lateral periosteal sleeve is intact)

Type 4 (Leich modification) - both cortex and both periosteal sleeves are
torn, multi directional instability, diagnosis is retrospective which is
apparent intra-operatively where on flexion of the elbow the distal fragment
of humerus will fall back ,on extension distal fragment of humerus will come
anteriorly.
Type 4 (leich modification) - both cortex and both periosteal sleeves are
torn, multi directional instability, diagnosis retrospective, apparent intra-
operatively.

The stable form of fixation of type 3and 4, fractures is by divergent lateral K

wires or cross wire.
Type 1

Type 2

Type 3
Factors in favour of post traumatic malunited supracondylar humerus
fracture.
H/o trauma with relevant treatment
Thickening and irregularity in the supracondylar area
3 bony point relationship is maintained.
Internal rotation deformity at elbow manifested as restricted external
rotation & increased internal rotation at shoulder joint
No deficiency of trochlear region and no widening of inter-condylar region
Subluxation of triceps tendon occurs in long standing cases.

D/D of cubitus varus deformity

Malunited Supracondylar # humerus
Malunited Lateral condylar # humerus
Osteonecrosis of trochlea
Physeal arrest.

Nerves at risk in supracondylar humerus #

Anterior interosseous nerve – Postero lateral ,Type 3
Radial nerve - Posteromedial,Type 3
Ulnar nerve - flexion type of supracondylar #

Complicatons
Early : compartment syndrome Nerve injury
Vascular injury
Late : malunion,VIC
Cubitusvarus
Myositis ossificans
Cubitus varus – due to malunion of supracondylar fracture, unequal growth
at distal physis

Indications of surgery (Rockwood)

● Cosmetic
● Pain
● Tardy Postero-lateral rotatory instability
● Ulnar nerve palsy(chronic)
● Increase risk of lateral condyle fracture

Surgery-
● Hemi-epiphysiodesis- in patient with medial growth arrest or
trochlear AVN
● Supracondylar corrective osteotomy- French , oblique, Kim
LATERAL CONDYLE FRACTURE OF HUMERUS /CUBITUS VALGUS

It is an epiphyseal intra-articular fracture. Notorious for Non-Union. It is a

fracture of necessity.

Milch classification:

Type 1 - # line passing through metaphysis to Capitello-trochlear groove

traversing through ossification center. It’s a stable fracture. Salter Harris
type IV
Type 2 - # line passing from metaphysis coursing through physis & exiting
inter-cristal groove out of ossification center. It’s an unstable fracture.
Salter Harris type II

Causes of Cubitus valgus deformity

Non union # lateral condyle
Osteonecrosis of lateral trochlea
Medial epiphyseal injury
Malunited supracondylar fracture humerus
Factors contributing to non-union –
Intra-articular pattern of fracture
Fracture fragment bathed by synovial fluid
Forces exerted by muscle pull on condylar fragment keeping it displaced
Displaced fragment with opposition of articular cartilage
Tardy ulnar nerve palsy develops due to –
Stretching of nerve due to medial angulation
Friction induced perineuritis
Adhesions causing entrapment of the nerve in Cubital tunnel

UNREDUCED RADIAL HEAD DISLOCATION

Factors:

Prior history of trauma

Radial head palpable anteriorly in elbow rather than its original location
Restriction of supination and pronation
Ulnar bow absent

D/D –

Traumatic isolated radial head dislocation

Congenital radial head dislocation
Congenital radio-ulnar dislocation

Complications of unreduced radial head dislocation

Tardy ulnar nerve palsy

Tardy radial nerve palsy
Progressive cubitus valgus
Restriction of rotations of forearm
Functional impairment (weakness and stiffness)
 CEREBRAL PALSY

DEFINITION:
Cerebral palsy (CP) describes a group of disorders of the development of movement
and posture, causing activity limitation, that are attributed to non-progressive
disturbances that occurred in the developing fetal or infant brain.
The incidence of CP is approximately 2 per 1000 live births and is the most common
cause of physical disability affecting children in developed countries.

There is no agreed upon diagnostic criteria to make a diagnosis of CP. The diagnosis
is considered when:
1. Developmental delay.
2. Persistent primitive reflexes.
3. Significant abnormalities in motor function.
4. Tone abnormalities.

The diagnosis of CP is usually made after 2 years of age unless the deformities are
severe and definitive.

Pathophysiology:
Classification systems in Cerebral Palsy:
Geographic classification:
Gross Motor Function Classification System (GMFCS):
Palisano et al. Illustrations by Kerr Graham
GMFCS usually remains unchanged unless the child has not received age
appropriate treatment.

Functional Mobility Scale (FMS):

It is a measure of performance, which assesses the walking ability at 5, 50 and
500 meters.

HISTORY:
1. Risk factors:
a. Antenatal: TORCH infection, thyroid disorder in the mother, pre-
eclampsia and eclampsia.
b. Post-natal: Delayed cry, NICU admissions, Jaundice.
2. Developmental delays: Motor and social.
3. Associated concerns:
a. Seizure disorders
b. Vision and hearing problems
c. Behavioural problems
d. Schooling
4. Prior treatments:
a. Physiotherapy
b. Medications
c. Orthotics
d. Surgeries

EXAMINATION:
Involves the following:
1. Clinical examination – spasticity and contractures
2. Radiological examination – hip surveillance, knee contractures, patella
position, foot deformities, spine deformity, torsional profile of the lower
limbs.
3. Instrumented gait analysis.
Hip surveillance:
Hip dislocation is a major problem in children with Cerebral Palsy. The incidence of
hip dislocation is linear with GMFCS levels.
Hip surveillance is essential in preventing hip dislocation.
Highest risk of hip dislocation is at the age of 2 – 6 years.
Subluxation is measured by Reimer’s index. (A/B * 100)
· < 30 %: Normal
· 30 – 40 %: At risk
· > 40 %: Subluxation requiring intervention.

Protocol: First x ray to be done at 2 years / earliest visit.

GMFCS 1: Repeat at 3 and 5 years.
If GMFCS is the same, drop from surveillance at 5 years.

GMFCS 2 & 3:
Yearly survey till 4 - 5 years.
If stable, review at 8 - 10 years.
If unstable, yearly survey till 8 - 10 years.

GMFCS 4: 6 monthly till 7 years.

If GMFCS is same and MP is stable - yearly till skeletal maturity
* If MP< 30% and GMFCS stable - review at pre puberty.

GMFCS 5: 6 monthly till skeletal maturity.

* Yearly after 7 years if MP <30%.

* Stable: MP increase < 10% in one year.

Gait analysis:
Sagittal gait pattern: Graham et al.

TREATMENT:
Multidisciplinary approach
Physiotherapy – focus on strengthening and stretching / goal directed
therapy
Occupational therapy – upper limb / constraint therapy
Splints: Ankle foot orthosis – type depending on gait impairment

Spasticity management:
Global :
- Medications: Baclofen , Diazepam , Tizanidine
- Intrathecal baclofen pump
- Selective dorsal rhizotomy
Focal:
- Botulinum toxin injections – based on surface marking / Electrical stimulation /
ultrasound guided
- Alcohol / Phenol injection into specific nerves.
Other modalities:
- Tone inhibition AFO/CAST
- Extracorporeal shock wave therapy

SURGERY:
* Birthday surgery – historic importance, surgeries every year to tackle a particular
problem.
Depending on involvement – preferably a Single event multilevel surgery approach
(SEMLS) broadly:
Release of contractures:
Equinus: calf lengthening procedures

· Strayers and Vulpius are usually preferred.

· Closer to the TA, greater is the correction.
· Zone 3, rarely done.
· TA never lengthened.
o Only indication of TAL: Isolated equinus deformity in Hemiplegic CP.
Knee flexion: Medial hamstrings
· Semi T release
· Gracilis release
· Semi M fractional lengthening
Adduction: Adductor release
· Adductor longus
· Gracilis
Hip flexion: Iliopsoas release.

Lever arm correction

· Femoral anteversion
· Tibial torsion
Muscle transfers as appropriate ( eg: Rectus femoris transfers ,split tibialis
anterior transfers, split tibialis posterior transfers)

Knee flexion deformity:

· < 8 years: Distal femur anterior 8 plate guided growth.
· > 8 years:
o < 10degrees: Semi T to adductor longus transfer.
o > 10degrees: Distal femur extension osteotomy.

Patella alta:
· Tibial tuberosity apophysis open: Patellar tendon shortening / reefing
· Tibial tuberosity apophysis closed: Elmslie trillat procedure.

CP hip:
· Preventive: Soft tissue lengthening of Add. Longus, Gracilis, Iliopsoas and
Add. Brevis in that order.
· Reconstruction procedures:
o
Hip
open reduction
o
VDRO
o
Pelvic
osteotomy - Dega, San Diego or Pemberton.
o
Combination
of the above.
· Salvage procedures:
o Resection + soft tissue interposition - Castles procedure.
o Resection + PSO.
o Arthrodesis
o Replacement.

Foot deformities:
 1. Equinovarus:
Indicated if correction can’t be maintained an AFO (Intolerance to AFO) or is not
correctable passively.

The procedures that are recommended are

1. Steindler’s plantar fascia release for cavus,
2. Gastronemius recession for equinus
3. SPLATT (Split Tib ant transfer)
4. Tibialis Posterior tendon fascia lengthening (Frost) for Varus correction

If fixed deformity or contracture are present then bony procedures are indicated,
the options are
1. Subtalar fusion
2. Calcaneal slide osteotomy
3. Triple Arthrodesis .

2. Planovalgus:
Deformity caused due to spastic peronei, weak tibialis posterior tendon, tight
Gastrosoleus in any combination. Clinically flat foot with midfoot break is seen, i,e.,
hindfoot in equinus and forefoot in dorsiflexion.

Surgical options include medial and lateral column procedures:

· Lateral column procedure: Peroneus Brevis tendon lengthening,
Calcaneal lengthening osteotomy (Mosca procedure)
· Medial column Procedure: Reefing of the Talonavicular joint and Tibialis
posterior tendon,1StMetatarsal dorsal opening wedge osteotomy/medial
cuneiform dorsal opening wedge osteotomy.
Intra operatively the correction of deformity is evaluated by coverage of the Talar
head and restoration of the medial plantar arch.

In severely deformed feet /GMFCS IV and V the following options may be

indicated:
-Extra articular arthrodesis
-Calcaneal slide osteotomy/triple C osteotomy
-Triple arthrodesis

OSTEOMYELITIS / SEPTIC ARTHRITIS

Introduction
Musculoskeletal infections are a common cause of disability in children.
usually haematogenous in origin; penetrating trauma / contiguous
spread can occur as well. Femur and tibia are the most commonly
affected bones.
Pathophysiology
(1) Vascular anatomy-
Metaphysis has arterial loops that empty into venous sinusoids. The
resulting turbulence and slow flow creates a suitable environment for
bacterial proliferation – thus osteomyelitis is most common in the
metaphysis of long bones.
(2) Cellular anatomy –
The cancellous bones of metaphysis are relatively acellular with fewer
reticuloendothelial (RES) cells for phagocytosis compared to the diaphysis
Rapidly growing bones – larger metaphysis, longer distance for the RES
cells to traverse, so more time for the bacteria to establish an infection.
(3) Trauma –
Trauma lowers resistance to infection. Studies have shown that
bacteremia and trauma together can produce metaphyseal
osteomyelitis but neither insult alone produced osteomyelitis
(4) Cellular mediators of inflammation – The initial inflammatory
reaction is by the release of IL-1 from PMNs.This triggers PGE2 that
causes bone resorption and further inflammatory changes. There is
elevation of LTB4, TNF-a, IL-1b,6& 8.
Staphylococcus. aureus can directly produce Prostaglandins.

Common pathogens
Infants: Group B streptococci, Staphylococcus Aureus, Escherichia coli
Children (1-16yrs): Staphylococcus aureus, Streptococcus Pyogenes,
Haemophilus Influenza
Adults (>16 yrs): Staphylococcus Epidermidis, Staphylococcus Aureus,
Psuedomonas Aeruginosa, Serratia Marcescens, E. Coli
Characteristic pathogens:
Sickle cell disease – Salmonella (multifocal and diaphyseal)
Puncture wounds - Pseudomonas
Clinical Presentation:
1) Fever
2) Swelling
3) Pain
4) Not using the limb
5) With or without history of trauma
Symptoms 2-5 days usually not more than a week
History of URI or ear infection or local infections
General condition – history of sickle cell disease, compromised immunity
Clinical examination
Neonates and infants: few subjective or objective signs. Look for soft
tissue swelling or pseudo paralysis of the affected limb. Multi-focal
involvement in >50% cases.
Older children – swelling, bony tenderness, restricted movements of the
involved/adjacent joint
Investigations
• Parameters of inflammation/infection: C-reactive protein,
procalcitonin, erythrocyte
• sedimentation rate, white blood cell count
• Plain X ray
• Ultrasound
• Scintigram
• Magnetic resonance imaging
• Blood cultures
• Synovial fluid cytology
• Synovial fluid/bone sample; Gram-staining, culture

Discussion:
Radiographs should be closely inspected for
• Lytic or sclerotic lesions of bone,
• Periosteal elevation or calcification,
• Osteopenia,
• Joint effusions , and cortical disruption.

Deep soft tissue swelling is the first radiographic manifestation of

musculoskeletal infection.
Septic arthritis is more difficult to diagnose with nuclear imaging
Kochers criteria:
1) Fever (Temperature >38.5degree).
2) Inability to bear weight
3) WBC count >12.0x109 cells/L
4) ESR > 40mm/h
3 or more parameter at the time of presentation the probability septic
arthritis >90%
Peltola and Vahvanen’s diagnostic criteria - At least 2 of the below
Should be met for diagnosis
1) Pus aspirated from bone
2) Bone or blood culture positive
3) Classic symptoms present
4) Radiological features present

Differential diagnosis for Septic Arthritis

 1) Transient synovitis
2) Viral arthritis
3) Tuberculosis
4) Reactive arthritis
5) Juvenile rheumatoid arthritis
6) Sickle cell anemia
7) Perthes disease
8) Slipped capital femoral epiphysis
9) Septic bursitis
10) Henoch-Schonlein purpura

Differential diagnosis for Acute osteomyelitis

1) Traumatic fracture
2) Septicemia
3) Rheumatic fever
4) Cellulitis
5) Thrombophlebitis
6) Pyomyositis
7) Leukemia
8) Benign/malignant tumors
9) Child abuse
10) Scurvy
11) Stress fracture

Treatment
ACUTE OSTEOMYELITIS:
Start empirical antibiotics after obtaining cultures. Sensitive intravenous
antibiotics until evidence of response to treatment in the form of clinical
improvement ( resolution of fever/ local symptoms) / decrease in CRP-
followed by oral antibiotics for a total duration of 6 weeks ( there is recent
evidence suggesting shorter durations are as effective- Peltola et al Pediatr
Infect Dis J 2010;29: 1123–1128).
Surgery:
AGGRESSIVE PRIMARY SURGICAL
❑ extensive open irrigation and drainage of pus, hematoma
❑ granulation tissue;
❑ cortical drilling or fenestration
❑ curettage of the medullary canal on both sides, with care to avoid the
growth plate
MEASURED APPROACH
❑ Failure of antibiotic therapy alone.
❑ more advanced stage of AHO, include the
1) presence of a subperiosteal or intraosseous abscess or a visible
metaphyseal lytic cavity on radiographic studies,
2) as well as a limited clinical or laboratory response to an initial course
of antibiotics
CHRONIC OSTEOMYELITIS:
Predominantly a surgical management
SURGERY
• Débridement surgery is the foundation of osteomyelitis treatment.
• In general, all devitalized tissues should be excised, with débridement
of bone carried down until uniform haversian or cancellous bleeding is
visualized (the “paprika” sign).
• The major goal of surgery in chronic osteomyelitis is to
– remove the sequestrum,
– abscess cavities, and granulation tissue that harbor bacteria and prevent
the circulation of systemic antibiotics into the infected tissues
• Ideally, the dead space is managed by using durable, vascularized
tissue and performing complete wound closure whenever possible.
• Antibiotic-impregnated polymethyl methacrylate (PMMA) beads can
be exchanged every 2 to 4 weeks to reduce the dead space while increasing
antibiotic levels at the site of infection
• The condition of the periosteum is important to the healing process and
is best assessed by the presence of involucrum, which may take 2 to 8 months
to form.
Note: prerequisite for sequestrectomy is adequate involucrum and fully
separated sequestrum.
• In the presence of generous involucrum, most children regenerate
adequate diaphyseal new bone to avoid the need for bone grafting and
reconstructive procedures
antibiotic duration is controversial- in the absence of persisting discharge /
fever or other constitutional symptoms – a two-week course of antibiotics
should suffice
 SEPTIC ARTHRITIS
Hip – Arthrotomy at the earliest
Knee / ankle / wrist / elbow – multiple aspirations have been described
If the CRP level not decreasing after arthrotomy and antibiotic for 5 days
then investigate for other focus of infection with advanced imaging (MRI).
DISCUSSION
Alogrithm for antibiotic therapy in childhood acute osteoarticular infection

SEPTIC ARTHRITIS
DIAGNOSED

INTRAVENOUS ANTIBITIC
FOR 2-4 DAYS QID

CRP DESCENT AND

CLINICAL SIGNS SUBSIDING

SWITCH TO ORAL ROUTE

WITH SAME HIGH DOSE QID

CRP>20MG/L ON DAY10 CRP<20MG/L ON DAY10 CONCOMITANT

SIGNS RELEIVED SIGNS NOT RELEIVED OSTEOMYELITIS

ANTIBIOTICS TOTAL 10D ANTIBIOTICS UNTIL ANTIBIOTICS

CRP <20 AND CLINICAL TOTAL 20D
SINGS RELEIVED

Courtesy Heikki peltoloa et al

 ARTHROGRYPOSIS MULTIPLEX CONGENITA

Arthrogryposis- Greek (“arthron” – joint, “gryposis” – curvature)

describes multiple configurations of congenital limb contractures, usually
non-progressive and often gradually improving with appropriate
management.

HISTORY

“Congenital myodystrophy” in 1841 by Otto,

“Multiple congenital contractures” by Schantz in 1897, and
“Arthrogryposis” by Rosenkranz.
“Arthrogryposis Multiplex Congenita” used to date was coined by Stern in
1923 in a  report on multiple symmetrical joint contractures in 3
patients

Congenital contracture” denotes a limitation of the passive and active range

of motion in a  given joint or joints with coexistent structural and/ or
functional abnormalities of the surrounding soft tissues – the joint capsule
and periarticular ligaments.

ETIOPATHOGENESIS

The pathological mechanism of congenital joint contractures usually

involves the absence of active fetal movements (akinesia), normally
appearing in the eighth week of fetal life –
fetal akinesia lasting over 3 weeks may be sufficient to result in absence of
normal stretching of muscles and tendons acting on the affected joints, and
cause reduced compliance of the joint capsule and periarticular
ligaments, consequently leading to fibrosis and contractures of the affected
joints determined by the passive position of the limb

Experiment in chicken foetus - administration of curare, or infection with

Coxsackie or Newcastle viruses, results in joint stiffness resembling
arthrogryposis.

Pathologies, leading to hypomobility, such as: –

1. Neurogenic factors (motor center diseases; disorders of the peripheral
nerves or neuromuscular junction),–
2. Myogenic factors (muscular dystrophies, mitochondrial diseases),–
3. Diseases of the adjacent tissues and/or articular tissues (diastrophic
dysplasia).

Alternatively, the abnormalities may concern the fetal environment: –

1. maternal diseases (myasthenia gravis, diabetes),–
2. mechanical factors (anatomic abnormalities of the uterus; multiple
pregnancy; Oligohydramnios, Amniotic bands),
3. Vascular and nutritional disorders.

The following inheritance forms of Arthrogryposis are known:–

1. Autosomal dominant, e.g. in distal Arthrogryposis type I, with 50%
inheritance risk;–
2. Autosomal recessive, e.g. in multiple pterygium syndrome (Escobar
syndrome), with 25% inheritance risk;–
3.X-linked recessive, where all daughters of a  male carrier are carriers.
Fifty percent of male children of these daughters can express
arthrogryposis phenotype, whereas 50% of their female children will be
carriers;–
4.Sporadic, with very low inheritance risk;–
5.Mitochondrial inheritance.

TYPES
1. Amyoplasia, classic arthrogryposis
Most common in clinical practice
1/10000 live birth
30% all congenital contracture
Normal or above-normal intelligence,
Expected 20-year survival is 94%;
it is considered that they can survive until middle and advanced age
without dysfunction of other organs caused by the primary disease.

Classic Arthrogryposis is characterized by symmetric involvement of all

limbs in 60–92% of patients. Lower limb involvement alone is observed in
7–24% of patients, whereas upper limb involvement alone is observed in 1–
13% of patients .

The clinical picture observed in most patients with the classic four-limb
involvement is as follows:–
The shoulder – adducted and internally rotated. Deltoid muscle function is
deficient.–

The elbow – most patients present with extension contracture of the elbows
with deficient brachialis and biceps brachii function, resulting in absent or
significantly deficient elbow flexion. Flexion contracture of the elbow is less
commonly observed. The elbow joint is cylindrical in appearance and devoid
of any skin creases

The wrist – most patients present with characteristic palmar flexion

contracture with ulnar deviation and pronation of the hand. Patients with
myogenic Arthrogryposis may present with extension contracture of the wrist

The hand – finger contractures may vary in classic Arthrogryposis, but the
most common feature is increasing distally flexion contractures of
interphalangeal joints.

Metacarpophalangeal joints may present with relative extension contractures.

The thumb is usually adducted.
Finger contractures are usually stiff and most patients have significant
deficiency of active finger movements;
However with this deformities, children with AMC often have unexpected
abilities to perform daily functions – even with rudimentary active finger
motion.
In syndromic Arthrogryposis “clenched fist” with “thumb in palm”
deformities may be observed
The hip – contractures are common; these are mostly flexion, abduction, and
external rotation contractures of varying degrees of severity. Unilateral or
bilateral hip dislocation is observed in approximately 1/3 of patients.

The knee – The most common deformity is flexion contracture of varying

severity; an extension contracture is less commonly observed and may be
accompanied by knee dislocation. Flexion contracture is usually associated
with weak quadriceps and a “dimple” over the patella

The ankle joint and foot – deformities of these body regions are observed in
nearly all AMC patients, with severe talipes equinovarus being the most
common; less frequently vertical talus might be observed. All these
deformities are characterized by usually extreme severity, difficulties in
treatment and high tendency to relapse
The spine – abnormal curvatures are observed in approximately 28% to
67% of patients; most commonly these are simple long thoracolumbar curves
without concomitant vertebral malformations; however, the curves often
rapidly progressing.

Facial skeleton – hypoplasia of the mandible (Micrognathia) is often

observed; in severe AMC cases, it may be accompanied by contracture and
limited function of Temporo-Mandibular joints

Extraskeletal clinical signs and symptoms – normal intelligence;

Hemangioma on the forehead.
Approximately 10% of patients present with abdominal wall abnormalities in
the form of inguinal hernia or gastroschisis.Varying abnormalities of the
reproductive system are observed in 55% to 70% of patients.

2. Distal Arthrogryposis
Autosomal dominant

The diagnosis of distal Arthrogryposis requires that two out of the described
diagnostic criteria for upper and lower extremities are met.
In the upper limb, these are: Ccamptodactyly or Pseudocamptodactyly
(limitation of passive PIP extension with concomitant hyperextension of the
wrist); hypoplastic or absent flexion creases on the fingers, and ulnar
deviation of the wrist.
The criteria for the lower limb are: Talipes Equinovarus; congenital flat foot
(congenital vertical talus), Pes calcaneo-valgus, and Metatarsus Adductus.
In familial multiple congenital contractures, the presence of only one of the
above criteria is sufficient for the diagnosis of distal arthrogryposis.

A classification system and clinical features of distal Arthrogryposes

I) Characteristic clinical features are Camptodactyly and Talipes
Equinovarus with possible concomitant shoulder and hip contractures. The
DA1 variant is determined by a gene located on chromosome

II) The phenotype was first described in 1938 as the Freeman-Sheldon

syndrome , where contractures of fingers and toes are accompanied by
kyphosis, scoliosis, and malformations of the facial skeleton with
characteristic facial appearance: narrow mouth, wide cheeks, an H-
shaped chin dimple, small wide-based nose, high palate, and small
tongue. Growth retardation, inguinal hernia, and cryptorchidism have also
been reported. Another name of this syndrome is “Whistling face”
syndrome. The Freeman-Sheldon syndrome is currently classified as DA2A,
as a  separate DA2B subtype, known as Sheldon-Hall syndrome has been
described; this syndrome combines clinical features of DA1 (hand and foot
contractures) and some features of DA2 (prominent nasolabial folds, slanted
down-facing eyes, and narrow mouth) and is currently considered to be
probably the most common type of distal Arthrogryposis.

III) Also known as Gordon’s syndrome, this rare syndrome is characterized

by low stature and palatoschisis

IV) Rare. Contractures with severe scoliosis

V) Contractures with ocular signs and symptoms such as limited eye motion,
ptosis, strabismus, and the absence of typical hand flexion creases . Chest
wall muscle abnormalities have also been observed, potentially causing
restricted respiratory movements and, consequently, pulmonary
hypertension

VI) Similar to DA3, DA4; very rare, characterized by sensorineural auditory

abnormalities

VII) Difficulties in mouth opening (trismus) and Pseudocamptodactyly: wrists

position in palmar flexion with MCP joints in extension. Sometimes
accompanied by low stature and knee flexion contractures

VIII) Autosomal dominant multiple Pterygium syndrome

 IX) Beals syndrome, i.e. congenital arachnodactyly with contractures of
small joints of the fingers. Patients with this type of Arthrogryposis are tall
and slender, phenotypically resembling Marfan’s syndrome but without
cardiovascular abnormalities

X) Congenital plantar flexion contractures of the foot

3.Arthrogryposis with CNS etiology

Developmental disorders of frontal lobe (hydraenchephaly, microcephaly).
Reduced cortical activation of motor neurons.

4. Neuromuscular causes- Mother with Myasthenia Gravis,

congenital myopathies.

Other types
1. Pterygium syndrome (pterygia: these are skin webs located in the area
of a  joint and causing limitation of its range of motion)-AD and AR(lethal
Bartsocas-Papas syndrome)
2. Multiple Pterygium syndrome-Escobar syndrome- facial dysmorphism,
neck (Bucco-sternal) webs, and hand contractures.AR - lethal
3. Larson syndrome- hyper mobile joints + congenital dislocation of
multiple joint including cervical spine, filamin B gene.
4. Brucks syndrome- A.R.-Osteogenesis imperfecta type 3+ AMC+
multiple contracture

PRINCIPLES OF MANAGEMENT

This comprehensive approach to treatment of AMC is based on a  triad of

treatment tools:
Firstly, rehabilitation including physiotherapy, manipulation of contractures,
and later social and occupational rehabilitation
Secondly, individually tailored orthotic management whether for
maintenance or correction of joint mobility, and for prevention of recurrent
deformities
Thirdly, a  broad spectrum of surgical techniques for correction of
musculoskeletal deformities, typically found in congenital contractures.

The upper limb should be considered a  functional unit.

The ultimate goal of treatment is restoration of personal care of the patient
and the use of communication devices (e.g. telephone, computer, pen) or
assistive devices used for ambulation (crutches, walker, wheelchair, car)
Similarly as in the lower limbs, initiation of conservative treatment of upper
limb contractures in the neonatal and early childhood period is of paramount
importance.

The shoulder joint rarely requires surgical treatment; a subcapital derotation

osteotomy of the humerus is done in severe internal rotation contractures.

The correction of passive range of motion in the elbow involves exercises,

manipulations and surgical procedures: in extension contractures, posterior
capsule and ligament releases of the elbow joint with triceps V-Y Plasty are
indicated.

In the absence of active elbow flexion, with maintained passive motion,

restoration of active flexion may be considered by means of muscle
transfers, thus replacing the action of a  less functional muscle with a  more
useful one –
1. The triceps tendon (as a  whole or the long head only) is transferred
onto the biceps tendon or its remnant
2. Other options-Latissimus dorsi, Pectoralis major, Sternocleidomastoid
and pedicled Gracilis transfer .

Severe palmar flexion wrist contractures require surgical soft tissue releases
on the palmar side or wedge bone resections in the distal radius or wrist
arthrodesis.

In selected cases, thumb correction procedures (adduction contractures) or

deepening of the first inter-digital space may be indicated.

Surgical management of the spine

Spinal deformities develop in 30–62% of Arthrogryposis patients .In
moderate deformities, rehabilitation measures are used; the use of
corrective braces usually has limited efficacy in Arthrogryposis children,
but some authors recommend it in curvatures of up to 30° of Cobb’s angle .
Early onset of deformity, pelvic obliquity, lumbar hyperlordosis and paralytic
type of the curve are predictors of rapid progression and constitute
indications for surgical corrections
AMC have higher rate of complications such as pseudarthrosis or progression
of angular deformity with posterior spinal instrumentation in place (the
crankshaft phenomenon)
Surgical management of the lower limb In AMC children,
lower limb contractures are frequently multifocal and severe.

The hip Contractures of the hip are present in nearly 90% of AMC children;
these are usually flexion contractures. In the case of moderate contracture
severity (up to 30°) the treatment may be limited to manipulations of
contracted hip flexors and orthotic management . Flexion contractures over
30–45°usually require surgical correction as they impair mobilization and
ambulation and result in increased compensatory hyperlordosis of the
lumbar spine.
Surgical management involves releases (transection) of contracted soft
tissues (including the rectus femoris and sartorius muscles, the iliopsoas
muscle, and the hip joint capsule), or, in the older child, proximal femoral
extension osteotomy. Moderate abduction and external rotation hip
contractures usually do not require surgical treatment as they actually
improve stability during ambulation, whereas severe cases may require in
corrective osteotomies
Hip dislocations are observed in 30% to 43% of AMC patients .In these so-
called Teratogenic dislocations, the use of abduction orthotic devices,
traction and closed reduction are unsuccessful and carry a risk of aseptic
necrosis and/or femoral head deformation.
Unilateral hip dislocation in an AMC child is a relative indication for open
reduction at 6–12 months of life, supplemented in the older child by proximal
femoral directional osteotomy and acetabular reconstruction.(Stilli S,
Antonioli D, Lampasi M, Donzelli O. Management of hip contractures and
dislocations in arthrogryposis. Musculosceletal Surg 2012; 96: 17-21.)

The treatment of bilateral hip dislocations in Arthrogryposis is a  subject of

controversy.

The Knee contractures are observed in up to 85% of AMC patients and

include flexion and extension contractures, whereas the former are more
frequent and carry a worse prognosis for independent ambulation .
Flexion knee contractures of up to 20° carry no significant impact on the
ambulation capacity.The treatment of more severe knee contractures,
should be carried out simultaneously with treatment of other joints of the
lower limb.
In the neonate and infant, conservative treatment involves manipulations of
the contracted joints with subsequent casting; this approach is more effective
in correction of extension contractures. Most flexion contractures require
surgical correction and often multiple procedures. In the growth period, the
most effective corrective method is knee flexor tenotomy with posterior
capsulotomy and posterior cruciate ligament transection. The classic method
of correction of flexion contractures is supracondylar extension osteotomy;
however, this procedure, when carried out in the active growth period,
often results in recurrence of flexion contracture, at a  mean rate of one
degree per month.
Alternative methods of correction of knee contractures include temporary
anterior epiphysiodesis of the distal femoral growth cartilage or the use of
circular external fixators with gradual soft tissue correction – the Ilizarov
method .Manually non-correctible extension contractures are an indication
for surgical management in the form of selective rectus snip (e.g.
percutaneous) with subsequent manipulation and casting. In older children,
extension contracture can be an indication for extensor apparatus V-Y plasty
with anterolateral and antero-medial capsulotomy. Another option is
shortening femoral shaft osteotomy resulting in relative elongation of the
knee extensor apparatus. Postoperative use of orthotic devices is helicoid
hinge knee brace.

The foot

Pes equino varus is the most common deformity of the musculoskeletal

system in the patient with multiple congenital contractures: it is observed in
approximately 70% of symptomatic Arthrogryposis patients and in 98–100%
of AMC patients. Approximately 2–12% of patients present with the so-
called congenital flatfoot (congenital vertical talus) .Isolated equinus
deformity, congenital metatarsus adductus, pes equino valgus, or pes
calcaneovalgus deformities are occasionally seen (approx. 1% of patients).
The objective of treatment of the feet in Arthrogryposis is conversion of the
deformed foot into a  painless “platform”, capable of supporting the body
weight on the whole foot surface area (referred to as “plantigrade foot”),
allowing mobilization and independent ambulation; the foot shape should
accommodate both orthotic devices and standard footwear. Similarly, as in
the case of other contractures, the treatment of foot deformities should be
started as early as possible in the form of manual manipulations with
subsequent casting. It should be stressed that conservative treatment of
Arthrogrypotic foot deformities is more difficult and requires longer time
than in phenotypically identical idiopathic deformities; if not performed
gently it can result, due to non-compliance of tissues, in iatrogenic fractures.
Classically, after reaching the maximum conservative correction (plateau),
surgical interventions were undertaken; these include capsuloligamentotomy
of the ankle, subtalar, and talonavicular joints, usually combined with
resection (not lengthening) of the contracted tendons: the Achilles, the flexor
hallucislongus, and flexor digitorum longus; peroneal tendons; occasionally
the flexor digitorumbrevis, and the plantar aponeurosis .In some severe or
neglected cases of foot deformities, notably in older children, surgical
excision of the Talus (Talectomy, Astragalectomy) is undertaken; this
procedure corrects the foot deformity by relative “lengthening” of soft tissues
and formation of a  tibiocalcaneal joint, usually with a  small range of motion
– but capable of supporting the foot for weight bearing. There are recent
reports on successful use of the Ponseti method in the management of
equinovarus deformity in Arthrogryposis.
Independent from the primary correction method (soft tissue release vs.
primary Astragalectomy) the recurrence rate of foot deformities after
primary surgical treatment of the equinovarus foot in Arthrogryposis may
approach 75–100% and patients usually require 3–4 revision procedures per
foot .The revision procedures vary and depend on the type of deformity
and patient age; options include repeat soft tissue releases,
Astragalectomy, Naviculectomy (total resection of the Navicular bone),
combined bone/joint resection procedures; corrections using ring external
fixation devices such as the Ilizarov or Taylor Spatial Frame, and
supramalleolar osteotomies.
 OSTEOGENESIS IMPERFECTA

Osteogenesis Imperfecta (OI) is a group of clinically and genetically

heterogeneous diseases characterized by susceptibility to bone fractures,
with variable degree of severity and presumed or proven defects in collagen
typeI biosynthesis. Other manifestations include Dentinogenesis imperfecta,
blue sclerae, and short stature, as well as hearing loss in adulthood.

Clinical manifestations range from asymptomatic individuals to severe cases

with perinatal lethality.

BIOCHEMISTRY

Type I collagen, the main structural protein of the extra-cellular matrix of

bone, skin, and tendons, consists of two pro--1 chains and one pro--2 chain
that interweave, forming a rigid triple helix.
Each chain contains N-(amino) and C-(carboxy) terminal propeptides and a
central domain consisting of 338 repeats of Gly-XY, where X and Y ,and
which often are, respectively Proline and Hydroxyproline. Glycine, as the
smallest amino, is the only residue that can occupy the axial position in the
triple helix, so that any change in a glycine residue will result in the
disruption of the helical structure
Mutation in COL1A1 and COL1A2 genes alter the structure or the amount of
type I collagen, resulting in a phenotype of skeleton that ranges from
subclinical to lethal.

SILLENCE CLASSIFICATION
I. Autosomal dominant with blue sclera.Variable bone fragility,
blue sclera, early deafness, mild stunting.I-A: normal teeth.I-B
and I-C: Dentinogenesis imperfecta.

II- Perinatal lethal form,radiographically characterized by coupled femoral

and beaded ribs.Extreme bone fragility, perinatal lethal .
II-A: short and widened long bones with fractures, wide ribs with fractures.
II-B: short and widened long bones with fractures, ribs with sparse fractures.
II-C: thin long bones with fractures, thin ribs

III- Progressively deforming, with normal sclera. Moderate to severe bone

fragility, blue sclera in infancy. Early-onset kyphoscoliosis. Dentinogenesis
imperfecta may be present.

IV- Autosomal dominant inheritance with normal sclera. Bone fragility,

moderate to severe deformity of the long bones and spinal column, white
sclera, moderate to severe stunting. IV-A: normal teeth IV-B with
dentinigenesis imperfecta.
DIAGNOSIS OF OI
Prenatal diagnosis
Features that can be seen on prenatal ultrasonography usually between 14
and 18 weeks of gestation (for Types II and III OI; Type I cannot be easily
diagnosed) include increased nuchal translucency, reduced echogenicity of
bones,multiple fractures of the long bones, ribs, and skull at various stages
of healing,and bowing of the long bones .
Once there is a concern for OI via prenatal ultrasonography, the diagnosis
can be made via either (1) chorionic villus sampling demonstrating abnormal
type I collagen via electrophoresis, or (2) amniocentesis, which obtains fetal
DNA for molecular analysis.
As the majority of mutations will involve COLA1/COLA2 genes, testing is
centered around the identification of these genes.

Postnatal diagnosis
In the postnatal period, positive clinical findings (multiple fractures, blue
sclera) and the exclusion of other metabolic causes of Osteoporosis .
The confirmation of the diagnosis is made via dermal biopsy and/or DNA
analysis. Dermal biopsy has been shown to be about 90% positive in
suspected OI cases, whereas DNA analysis has been able to identify
COLA1/COLA2 mutations in 95% of cases.
So DNA testing should be utilised because it is more sensitive for diagnosis.
TREATMENT OF OI
Management of OI
Pharmacologic Treatment
The primary objective of OI therapy revolves around decreasing the number
of pathologic fractures, decreasing pain, increasing growth, improving bone
metabolism, and optimizing function.

BISPHOSPHONATES (BP)
The current mainstay of pharmacologic treatment has been centered on
bisphosphonate (BP) therapy, which serves to decrease bone turnover and
inhibit bone resorption. BPs slows down bone resorption by shortening
osteoclast life. This fact creates a dilemma in the child treated with OI:
although less bone is resorbed, osteoblasts may still be producing defective
collagen.
.

Clinical systematic reviews

In a Cochrane review, Phillipi and colleagues examined the results of BP
treatment of OI. The investigators looked specifically at BMD, fracture
reduction, and improvement in clinical function, reflective of the knowledge
surrounding BP and OI treatment. Only 8 quality studies were identified.
From these studies, it was concluded that both oral and intravenous
bisphosphonate therapy increased BMD in children and adults with OI.

Oral BP treatment
Oral treatment was initially the mode of BP delivery for patients with bone
disorders. Alendronate, Opaldronate, Risedronate are the most common
oral formulation used.

Intravenous BP treatment
Intravenous treatment developed as an alternative to oral BP, with potential
increased potency and speed of action.
Barros and colleagues compared the safety and efficacy of Zoledronic acid
and Pamidronate in children with OI. Pamidronate has been proposed as the
standard treatment in children with OI.

Role of growth hormone with BP therapy

Some investigators have postulated that the use of BP with recombinant
human growth hormone(GH) may be a feasible treatment for some forms of
OI, particularly as GH may increase the production of type I collagen in
patients who have a collagen synthesis defect.
 Surgical Management of Osteogenesis Imperfecta
The principal issue from an orthopedic standpoint remains pathologic
fractures and deformities of long bones . With poor bone stock and
decreased quality of collagenous tissues, patients can experience fractures
starting in utero and later in life from otherwise benign falls or minor
injuries. There has been a continual evolution of the fixation options for
these patients.
Early treatment modalities
In 1959, Sofield and Millar introduced the concept of osteotomies secured
with intramedullary nails to treat fractures and deformity in patients with
OI. Treatment involved complete subperiosteal exposure of the bone with
multiple osteotomies fixed around an intramedullary pin. Although leading
to excellent correction of deformity and fracture prevention, this procedure
was fraught with complications including devascularization of bone via a
wide subperiosteal exposure, bone thinning, decreased ambulatory
capacity, hardware failure, and multiple revisions because of growth.

Expanding rod systems,

1. Bailey and Dubow- These rods had fixation in the epiphyses (via a T-
piece) and grew as the child grew. These early telescoping systems,
however, had high complication and failure rates.
Due to problems with T-piece fixation, the Sheffield telescoping rod system
was developed in the 1980s. This system had a fixed T-piece on either end
that could be rotated during the procedure for better epiphyseal fixation.
Fassier-Duval (FD) Telescopic IM System (Pega Medical, Quebec, Canada)
was developed over the last decade, with initial reports of only a 14%
reoperation rate .The advantage of this system is a single proximal entry
point and improved “screw-in” fixation in the epiphyses without the need for
a large arthrotomy. This system protected the peri-rod joint, reduced
migration, and aimed to be less invasive with reduced mechanical
complications. Using principles used in traditional adult trauma and standard
intramedullary nailing, FD rods are introduced through the greater trochanter
of the femur and the area anterior to the tibial spines of the proximal tibia.

Combination treatments
Regardless of the type of surgical technique used, the use of BP in the
perioperative period still remains controversial.
 MENINGOMYELOCOELE

Spinal dysraphism– myelomeningocele (MMC), meningocele,

lipomeningocele, caudal regression syndrome (lumbosacralagenesis).

Neural tube defects- MMC, encephalocele, anencephaly

MMC
Sac like protrusion mostly posteriorly, because of chance of breaking of
meninges-Surgery is mandatory.

Meningocele,in contrast to MMC, does not have neural involvement or

myelodysplasia , so not associated with bladder bowel or lower limb
weakness.

Associations of MMC- Diastematomyelia, Hydromyelia , Hydrocephalus,

Arnold Chiari malformation, Tethered cord syndrome.

Prenatal screening-
USG, AFP of maternal blood.

Prenatal use of folic acid decreases the incident of neural tube defect.
Lesions can occur at any level along the spinal column but predominate in
the lumbosacral area.

In the usual type of lesion, there is a raised mass on the back covered
laterally at its base by normal skin, but the apex of the mass is devoid of
skin, it is covered by a paper tissue–thin membrane (arachnoid) through
which nerve roots can be seen.

Underlying the neural placode is the arachnoid sac and subarachnoid

space

The spinal cord may be (1) cystic or cavitated, (2) solid but degenerated and
disorganized, or (3) grossly proliferated.

The principal defect in vertebra is the arrested development of the posterior

elements (laminae and spinous process)

Lorber’s criteria,
Presence of severe paralysis (upper lumbar or higher),
Head circumference at or above the 90th percentile,
Congenital kyphosis,
Other major congenital anomalies such as heart disease, and
severe birth injury

The above criteria’s were associated with a significantly greater likelihood of

death in infancy or severe handicaps in survivors, so aggressive surgery is
contraindicated in them.

Role of prenatal surgery is controversial due to increase risk of preterm

delivery and uterine dehiscence.

Prognosis
The single most important physical factor for maintaining ambulation in
adulthood seems to be the strength of the quadriceps muscle. Most
patients with a lower lumbar (L4 or L5) or sacral lesion are community
ambulators (95%); those with higher levels affected (thoracic) usually are
not (<24%). Additional factors in non-ambulation are obesity, hip deformity,
scoliosis, foot and ankle deformity, and age.

Upper limb
Upper extremity dysfunction can be secondary to neurologic impairment by
hydrocephalus, brainstem compression by the Arnold-Chiari malformation,
Hydromyelia involving the cervical spinal cord, or cerebral insult caused by
the placement of ventricular shunts or infection of these shunts, Shunt
operations more than three have increased propensity for upper limb
dysfunction.
Upper extremity dysfunction can take the form of spasticity, ataxia,
dyspraxia, or a combination of these.

Associations-
Precocious puberty is associated with MMC
Cognitive difficulties
depressive mood, low self-worth, and suicidal ideation.

Thoracic level spinal involvement.

Patients with thoracic level lesions essentially have flail lower extremities
and frog-leg deformity is frequently present in these patients at birth,
characterized by hip flexion, abduction, and external rotation contractures.
knee flexion and ankle equinus contractures.

Lower lumbar level

Patients with lower lumbar lesions have greater hip adductor strength and,
more importantly, quadriceps power to provide active knee extension

Sacral level
Patients with sacral level myelomeningocele have near normal knee
function and more stable hip, foot, and ankle function. Their partial paralysis
and insensate skin can lead to a number of foot problems, however,
including cavo varus deformity, claw toes, and neurogenic ulcers.

Complications –
Latex allergy
Increase risk of infection
Pressure sores
Fractures- heal with exuberant callus.

Treatment
Multidisciplinary

Neurosurgical-
Early closure of the sac (within 48 hours) is a cornerstone in the
management of children with myelomeningocele. Sac larger than 18 cm is
likely to dehisce more after primary closure. Kyphotic deformity can be
corrected at the time of sac closure , but recurrence at later age is common.
Hydrocephalus is usually produced after closure of sac ,so
ventriculoperitoneal shunting is required in 90%.
Hydromyelia, diastematomyelia, and tethered cord syndrome is also taken
care by neurosurgery team.

Urological treatment
The goals of urologic management are to make these patients continent,
keep them free of lower and upper urinary tract infection, and preserve
renal function. The mainstay of management is to teach caretakers—and
ultimately the patients themselves—the technique of clean intermittent
catheterization.
Orthopedic treatment .goals
Correct deformities to help patients meet their maximal functional
capability.
The Orthopaedic surgeon must monitor spinal balance and deformity in the
myelomeningocele patient.
The Orthopaedic surgeon must assist in monitoring the neurologic status of
the growing patient because hydrocephalus, Hydromyelia, or tethered cord
syndrome secondary to Diastematomyelia or another anomaly or to scarring
at the original level of Myelodysplasia can occur.

Surgical treatment of specific Orthopaedic condition.

Equinus

Patients with positional neonatal equinus contractures associated with

higher level paralysis can initially be treated with extremely gentle passive
manipulation.

If the equinus deformity persists when the child is ready for orthosis for
standing and ambulation, percutaneous release or open lengthening of the
heel cord can be carried out.

Long toe flexor contractures is also associated with Equinus, which should
be divided. Otherwise, persistent toe flexion deformities can result in
pressure sores on the ends of the toes when the child is placed in shoes.
Careful postoperative casting for a few weeks should be followed by the
fitting of Orthosis required for standing or ambulation.

Equinovarus

Clubfoot deformity is a common irrespective of the level of myelodysplasia.

teratologic clubfeet the deformity is almost always rigid, with less
propensity to respond to conservative treatment: Requires extensive
surgery to correct, likely to recur, even after excellent correction.

Because crawling with the feet dragged behind and rotated internally
creates a deforming force that promotes recurrence, surgery should not be
performed before patients have reached the developmental milestone of
pulling to a stand.
When non-operative or minimally invasive techniques fail, extensive release
is often required. Bony procedures such as lateral column shortening are
required much more frequently than in patients with idiopathic clubfeet.
In patients with lower lumbar lesions, the Tibialis anterior tendon may be
lengthened or transferred to the midline or heel
In patients with upper lumbar or higher lesions, tendons are frequently
resected rather than lengthened.

Naviculectomy, talectomy, or Talar enucleation (Verebelyi-Ogston

procedure)to achieve correction is frequently required.

Infrequently, in the most severe deformities, bringing the foot into a

corrected position may cause vascular compromise, requiring combining
clubfoot correction and Tibial and fibular shortening.

Difficulty with wound closure

This is a common problem, and rotational flaps have been described for
primary closure of the surgical incision.
The wound may be left open or closed loosely and later window to be made
in cast and closure or dressing to be done through the window.
The deformity to be corrected slowly over 2/3 weekly cast change after
surgical release.

Recurrence of deformity can be treated by primarily bony procedures,

including midfoot and forefoot osteotomies, Talectomy, or Triple
Arthrodesis.

Calcaneal deformity
Patients with progressive calcaneal deformity or those with a propensity
toward ulcer development can be treated surgically to prevent this from
occurring.
Patients with mild calcaneal deformities from birth may respond to gentle
passive stretching of the foot into plantar flexion and splinting in a neutral,
weight-bearing position.
Patients with persistent or progressive calcaneal deformities associated
with unopposed Tibialis anterior function frequently require anterior release
of the deformity, usually combined with posterior transfer of the Tibialis
anterior to the calcaneus to facilitate brace fitting and prevent the
development of calcaneal plantar ulcers. The transfer is not performed if
this muscle is spastic.

Vertical talus
Congenital vertical talus occurs with greater frequency in patients with
myelomeningocele than in the general population, although it is much less
common than clubfoot and other deformities of the foot.
Manipulation same as CVT can be tried but recurrence is high.

Surgery should be delayed until the patient is neuro-developmentally ready

for orthosis and ambulation.

Valgus Deformity of the Foot and Ankle

Valgus deformity at the ankle is a common deformity in ambulatory patients
with myelomeningocele, irrespective of the level of paralysis.
The deformity may arise from the distal tibia, the subtalar joint, or both and
may be compounded by an external rotation deformity of the tibia. The
most common sequelae of this deformity is skin irritation or breakdown
over the medial malleolus from excessive pressure against the Orthosis .
Consideration for precise location of the clinical valgus (ankle or subtalar),
ascertaining whether the patient is skeletally mature and, if immature,
approximately how much growth remains in the distal tibia, and
deciding whether the extent of deformity requires immediate correction
because it is unbraceable or whether more gradual methods of correction
can be used.

Distal Tibia.
Surgical options for the management of distal Tibial valgus deformities
include distal tibial and fibular osteotomy, distal Tibial medial
hemiepiphysiodesis or growth tethering with implants such as staples,
screws, and plates, and Achilles tendon–distal fibular tenodesis.

Achilles’ tendon distal fibular Tenodesis

Their rationale was that the valgus deformity is secondary tolateral
compartment paralysis, with subsequent underdevelopment of the fibula,
and that this lack of growth stimulation can be compensated for by
tenodesis of a slip of the Achilles tendon to the fibula. With weight bearing
and ankle dorsiflexion, the tenodesis pulls downward on the fibula, leading
to gradual correction of the deformity.
Rotation deformity of Tibia
Extreme internal rotation may interfere with ambulation if the child is
catching his or her foot on the contralateral extremity during swing.
Internal rotational deformities are usually dynamic, secondary to medial
hamstring dominance, or fixed, secondary to intern tibial torsion.
Tibial osteotomy distally with fixation with crossed Steinmann pins or a
dynamic compression plate, is the preferred choice of treatment.
External rotation deformity with greater than 20 degree requires surgery.

Congenital Knee Flexion Contracture.

Patients can be born with flexion contractures of the knee.
Flexion contractures of less than 10 degrees resolve by the time the patient
is ready for ambulation, spontaneously or with judicious passive stretching,
even when the patient has no motor function across the knee. Knee flexion
deformity may recur, particularly in patients with higher levels of paralysis.

Congenital Knee Hyperextension or Dislocation.

Congenital knee hyperextension or dislocation may also occur in patients
with Myelomeningocele, usually in those carried in the full breech position.
Simple hyperextension deformity may respond to careful passive stretching
and splinting.
Congenital knee dislocation requires surgical treatment.
Developmental knee flexion contracture
Knee flexion deformities of 20 degrees or less are well tolerated in
ambulatory patients, with or without bracing across the knee
non-ambulatory patients can usually tolerate even more flexion contracture
without interference in mobility status or transfers.
If greater deformity is present, careful thought must be given to the
patient’s ambulation level and extent to which ambulation is being impeded
by the flexion contracture.
Contractures that interfere with ambulation or transfers may be treated
with radical knee flexor release or anterior distal femoral
hemiepiphysiodesis.

Knee extension contracture-

The deformity is most often a consequence of quadriceps spasticity but may
also be seen following extensive bracing or other immobilization in
extension, surgical treatment for
flexion contractures, or congenital knee dislocation.
In ambulatory patients, a V-Y Quadricepsplasty is effective.
In non-ambulatory patients, adequate flexion can usually be gained by
simple transection of the patellar tendon.
Knee Instability or Internal Derangement.
Usually, the problem is synovial irritation from multiplanar instability or
excessive movement of the knee, which frequently develops in adult
patients causes knee effusion.

Hip
Most common deformity is Abduction and External Rotation
Physiotherapy( internal rotation and adduction) to bring the legs in neutral.
A deformity that persists when the child is neuro-developmentally ready for
upright positioning with braces should be treated surgically.
Release of the tensor fasciae latae, Rectus femoris, Sartorius, and anterior
fibers of the Gluteus Medius and Minimus muscles from the anterior and
lateral pelvis usually achieves neutral positioning of the hips.

Hip Flexion deformity

Isolated flexion deformity may be due to a hip dislocation.
Patient can accommodate a deformity of 20 to 30 degrees in HKFO with
modifications made by the orthotist. When the deformity is greater than
this, hip flexor release or, rarely, extension osteotomy of the proximal
femur, should be carried out.

Paralytic Hip Subluxation or Dislocation.

The most dreaded hip problem is paralytic subluxation and dislocation of the
hip.
The presence of unopposed hip flexor and adductor muscle function in a
growing child, as seen in patients with upper lumbar lesions.

In myelomeningocele, the muscle imbalance between intact flexors and

adductors and weak or absent extensors and abductors drives the hip back
into a dislocated position, with accentuation of the structural deformity.

Principles of paralytic hip dislocation treatment:

(1) Obtain a concentric reduction, usually by means of an open reduction;
(2) Correct the bony abnormality (femoral anteversion and valgus, and
acetabular insufficiency, usually posterior) because there is no propensity
for spontaneous correction; and
(3) Seek to balance the flexor-adductor, extensor-abductor imbalance
muscle release.
.
Surgical treatment of hip dysplasia in patients with Myelomeningocele
should be performed only when there is progressive subluxation in an
ambulatory patient.