COMMON

COMMON PROBLEM
PROBLEM of
of
CONGENITAL
CONGENITAL ANOMALY
ANOMALY
in
in ORTHOPAEDIC
ORTHOPAEDIC

I P. Sukarna

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Most pediatric orthopaedic disorders
are caused by :
 congenital
 genetic
 developmental
 trauma
 infection
 inflammatory
 metabolic
 neoplasm
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Congenital disorder or birth defect
 the abnormality is present at birth
Development disorder
 the condition that appears later in the
child’s life
Genetic disorder
 a disorder that results from abnormality of the
genome
 this may be present at birth or appear at later life

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The cause of congenital anomaly :

1. Intrinsic
2. Extrinsic

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Intrinsic
a. Genetic : fi. Achondroplasia
b. Chromosom : fi. Down’s syndrome

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Extrinsic
a. Mechanic
 amnion disruption/vascular disruption streeter
disease (constriction band)
 Intrauterine pressure : calcaneo valgus, AMC
b. Teratogen
 maternal infection : Torches + AIDS
 maternal (endocrin) : diabetes mellitus
 environment : radiation, hiperthermia, hipoxia
 drugs, chemicals : thalidomide, CTX,
phenitoin, lithium, alcohol, nicotine, retinoic
acid
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 Embryonic period
 the first 8 weeks of gestation
 includes 5 stages fertilization, cleavage,
gastrulation neuralation and organogenesis
 by the end of embryonic period : all the
major body system established the basic
body plan is complete
 severe structural disorders may occur
caused by external pertubation
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Organogenesis
 Is the differentiation of the 3 primary cell types :
the ectoderm, mesoderm, endoderm, to
generate the early organ system during the end
of embryonic period of gestation
Growth is an increase in physical size of an organ
system
Development is a change in complexity, both
growth and differentiation, It is recognized as the
sequential physical changes that occur with the
aging of an infant

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Schematic illustration of the critical periods in human development. During the first two weeks development, of the embryo is usually not
susceptible to teratogens. During these pre-embryonic stages, a teratogen either damages all or most of the cells, resulting in its death, or
damages only a few cells, allowing the conceptus to recover and the embryo to develop without birth defects. Red denotes highly 9sensitive
periods when major defects may be produced (e.g. amelia, absence of limbs). Yellow indicates stages that are less sensitive to teratogens when
minor defects may be induced (e.g. hypoplastic thumbs)
Thalidomide

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 Incidency of the congenital anomaly

Cause Incident (%)

Chromosomal anomaly (6-7)

Gene (genetic mutation) (7-8)

Environmental factor (7-10)

Multi factorial (20-25)

Unknown (50-60)
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4 major errors of normal growth and
development (dysmorphogenesis)

1. malformation
2. Deformation
3. disruption
4. dysplasia

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1. malformation

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2. Deformation

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3. Disruption

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. Dysplasia
 anomaly in histogenesis (in tissue growth)
achondroplacia, osteochondromatosis,
osteogenesis imperfecta, Marfan’s syndrome

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 Prevention
 Prenatal care
 Marriage consultation
 Genetic screening

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 Therapy
 Postnatal
(1) Early detection
(2) Early treatment

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Torticollis
Infant

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Torticollis

Sternocleidomastoid muscle mass in muscular torticollis.

The mass develops in early infancy and disappears spontaneously
over a period of several months
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Torticollis

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Torticollis

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Torticollis neglected

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Torticollis

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Torticollis

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Radial clubhand

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Trigger

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DDH

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DDH

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DDH (Developmental Dysplacia of the Hip

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DDH

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DDH

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DDH

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CTEV

Intrauterine position. The hips are always flexed and externally

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rotated, while the knees are usually flexed and the feet turned inward
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CTEV

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CTEV : Ponseti 38
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CTEV-neglected

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CTEV-Neglected

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Out patient clinic

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RSUD.Dr.Soetomo
Macrodactyli

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Polydactyli

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Spina bifida

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Spina Bifida

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Streeter disease

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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AMC

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Osteogenesis imperfecta

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Osteogenesis imperfecta

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 Duchenne’s Muscular Dystrophy

15 tahun

8 tahun

2 tahun

Tanpa gejala atau minim - otot-otot melemah terutama Cacat berat

otot sekitar panggul dan kontraktur
- lordosis yang berat
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- betis membesar
Duchenne’s Muscular Dystrophy

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Duchenne’s Muscular Dystrophy

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Duchenne’s Muscular Dystrophy

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Marfan Syndrome

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Marfan Syndrome

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Amelia-hemimelia complete

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Lobster hand, amputated arm, DDH, Terminal paraxial hemimelia fibula

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Achondroplasia

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