Congen Abnorm Slides 101122 PDF

Common Otolaryngological
Congenital Abnormalities
Visual Synopsis of Classic Syndromes and

Viet Pham, M.D.
Features
Lewis Hutchinson, M.D.
Harold Pine, M.D.
Shraddha Mukerji, M.D.
http://www.explosm.net/comics
University of Texas Medical Branch
Grand Rounds Presentations
November 22, 2010
Foreword and Acknowledgements
Special appreciation to Dr. Hutchinson for his

assistance and contribution
Additional gratitude to Drs. Pine and Mukerji
All clinical photos are presented solely for

educational purposes
All other photos were obtained via a Google search
unless otherwise specified and are used without http://www.explosm.net/comics
permission
Objective
Highlight typical features of congenital abnormalities
evaluated in the otolaryngology practice
Visual emphasis on classical presentation of commonly
encountered syndromes
Down Syndrome
(Trisomy 21)
Extra chromosome 21
Meiotic nondisjunction in gamete formation
Mosaicism (1-2%)
Robertsonian translocation (2-3%)
Duplication (rare)
Increased risk with advanced maternal age
Most common cause of intellectual disability
Down Syndrome
Features
Brachycephaly
Flat nasal bridge and occiput
Small, low-set ears
Macroglossia, glossoptosis
Upslanting palpebral fissures
Epicanthal folds
Brushfield spots
Simian crease
Sandal gap deformity of feet
Excessive nuchal folds
Mental retardation (courtesy of Dr. Hutchinson via Maria Blazo, M.D.)
Down Syndrome
Features
Brachycephaly
(Dourmishev, 2009)
Upslanting palpebral fissure
(Dourmishev, 2009)
Macroglossia,
Epicanthus glossoptosis
Flat nasal bridge,
hypoplastic maxilla
Microtic, low-set ears
(Dourmishev, 2009)
Excessive
Brushfield spots Sandal deformity Simian crease nuchal folds
Down Syndrome
Other Features
Muscular hypotonia
Strabismus
Congenital cataracts
Atrial or ventricular septal
defect
Gastroesophageal reflux
Duodenal stenosis or
atresia
Hirschsprung disease or
celiac disease
Seizures
Down Syndrome
Prenatal Ultrasound
Absent nasal bones

First trimester (60-80%)
Second trimester (37-41%)
Hypoplastic nasal bones
Not useful as single marker in first
trimester
Best used with absent nasal bones in
second trimester (60-100%)
(Gonalves, 2004)
Down Syndrome
Otolaryngological Considerations
Tympanostomy tubes
Esophageal atresia,
tracheoesophageal fistula
Atlantoaxial instability
Obstructive sleep apnea
Hypothyroidism
Increased risk for malignancy
Acute lymphoblastic leukemia
Transient myeloproliferative disorder

Crouzon Syndrome
(Craniofacial Dysostosis)
Autosomal dominant
Virtually complete penetrance
Mutation of fibroblast growth factor receptor II (FGFR2) on
chromosome 10
Affects first pharyngeal arch
Precursor maxilla
and mandible
Early fusion of face
and skull bones
(courtesy of Dr. Pine)

Crouzon Syndrome (Jackson, 2009)
Features
Craniosynostosis
Exophthalmos
Hypertelorism
Strabismus
Psittichorhina
Hypoplastic maxilla
Mandibular
prognathism
Caused by a mutation in the fibroblast growth factor receptor II, located on chromosome 10
this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible
What occurs in the disease is that an infant's skull and facial bones, while in development, fuse early or are unable to expand.
Thus, normal bone growth cannot occur. Fusion of different sutures leads to different patterns of growth of the skull.
hypoplastic maxilla: insufficient growth of the midface
mandibular prognathism: chin appears to protrude despite normal growth of mandible and gives the effect of the patient having a
concave face
Mental retardation possible if premature closure of the cranial suture lines
Psittichorhina: beak-like nose
Crouzon Syndrome
Features
Strabismus
Cranial synostosis Exophthalmos Hypertelorism
(Jackson, 2009)
Mandibular
prognathism
Psittichorhina Hypoplastic maxilla

Crouzon Syndrome
Hearing loss in 1/3 of cases

Auricular misalignment
Ossicular fixation
Serous otitis media
Sensorineural and mixed hearing losses
Surgical craniofacial reconstruction
(http://candar.wordpress.com)
Crouzon Syndrome
(Jackson, 2009)
Apert Syndrome
(Acrocephalosyndactyly)
Autosomal dominant
Craniofacial abnormalities by FGFR2 mutations
Syndactyly by keratinocyte growth factor receptor (KGFR) mutations
Parents pass on to offspring
50% of the time
Sporadic mutation in 98%
Affects first pharyngeal arch
(Shah AR, Danahey DG. Distraction Osteogenesis of the Maxilla.

eMedicine 11 Feb 2009.)
Apert Syndrome
Features
Craniofacial dysostosis
Hypoplastic maxilla
Frontal prominence
Syndactyly
Exophthalmos
Hypertelorism
(courtesy of Dr. Hutchinson)

Saddle nose, depressed
nasal bridge
Oral cavity
High-arched palate, cleft
palate
Dental abnormalities
Apert Syndrome
Features
(Chen, 2009)
Malocclusion
Craniofacial dysostosis Syndactyly Ectopic eruption
Frontal
prominence Depressed
nasal bridge
Hypoplastic
maxilla
Hypertelorism
Apert Syndrome
Dr. Hutchinsons mnemonic
Apert = Crouzon + Syndactyly

Apert Syndrome
Conductive hearing loss

Chronic otitis media
Stapes fixation
Patent cochlear aqueduct
Surgical craniofacial reconstruction (Jackson, 2009)
Treacher Collins Syndrome
(Mandibulofacial Dysostosis)
Also known as Franceschetti-Zwahlen-Klein syndrome

Autosomal dominant
TCOF1 gene on chromosome 5q
New mutation in up to 60%
Complete penetrance, variable expression
First and second pharyngeal arches,
grooves, and pouches
Features
Characteristic facial dysmorphia

Downward slanting palpebral fissures
Hypoplastic supraorbital rims
Malar hypoplasia
Mandibular hypoplasia
Auricular and middle
ear malformations
Lower eyelid coloboma
May have cleft palate
Normal intelligence
(Tolarova, 2009)
Features
Downward slanting Malar hypoplasia Hypoplastic supraorbital rims

palpebral fissures

Lower eyelid colobomas Mandibular Auricular malformation
hypoplasia
Features
Downward slanting Malar hypoplasia Hypoplastic supraorbital rims

palpebral fissures Scant lower eyelashes

Lower eyelid colobomas Mandibular Auricular malformation
hypoplasia
Hearing
Conductive hearing loss in 30%
Ossicular malformation
Microtia and/or canal atresia
Mastoid hypoplasia
Some sensorineural hearing loss and
vestibular dysfunction
Upper airway obstruction
(Tolarova, 2009)
(Jackson, 2009)
Goldenhar Syndrome
Oculoauriculovertebral Dysplasia
Diverse etiologies
In utero vascular disruption with hematoma
Disturbed neural crest cells at 30-45 days gestation
No single genetic locus
First and second branchial arch
Hemifacial microsomia
when no internal organ or
vertebral disruption
Goldenhar Syndrome
Features
Hemifacial microsomia
Microstomia
Epibulbar lipodermoids
Upper eyelid coloboma
Vertebral anomalies
(Bailey, 2006)
Goldenhar Syndrome
Features
Mandibular
hypoplasia
Hemifacial microsomia Upper eyelid

coloboma
Microtia and preauricular tags/pits Epibulbar dermoid

Goldenhar Syndrome
Classification Scheme
OMENS
Orbital distortion
syndrome. Cleft Palate-Craniofacial Journal 2005; 42:477-80.

Anderson PJ, David DJ. Spinal anomalies in Goldenhar

Ear anomaly
Nerve (facial) involvement
Soft-tissue deficiency
Plus to include additional anomalies
Cardiac
Skeletal, limb
Pulmonary
Renal
Gastrointestinal
Goldenhar Syndrome
Classification Scheme: Mandible
(Horgan, 1995)
Normal mandible
Goldenhar Syndrome
(Horgan, 1995)
Type I
Smaller mandible but identifiable mandible
Goldenhar Syndrome
(Horgan, 1995)
Type II
Functioning temporomandibular joint (TMJ) but abnormal shape and glenoid
fossa
Type IIA
Glenoid fossa is in an acceptable position
Goldenhar Syndrome
(Horgan, 1995)
Type II
Functioning temporomandibular joint (TMJ) but abnormal shape and glenoid
fossa
Type IIB
Abnormally placed TMJ cannot be incorporated into surgical
reconstruction
Goldenhar Syndrome
(Horgan, 1995)
Type III
Absent ramus and nonexistent glenoid fossa
Goldenhar Syndrome
Orbits
Ear
(Horgan, 1995)
Goldenhar Syndrome
Facial Nerve
Soft tissue defect
(Horgan, 1995)
Goldenhar Syndrome
Hearing loss
More conductive than sensorineural
Ossicular abnormalities
Microtia
Aberrant facial nerve course
Pierre Robin Syndrome
Sequence of micrognathia, glossoptosis, and cleft palate

Syndrome reserved for multiple malformations by a single
etiology
Confusing classification, up to 14 definitions (Breugem 2009)
Possibly due to arrested intrauterine development
Mechanical
Neurological
Ontogenesis
(Tolarova, 2009)
Features

Cleft palate Glossoptosis Micrognathia
Retrognathia
Macroglossia and
ankloglossia uncommon
(Jackson, 2009)
Sequence
Between 7-11 weeks gestation
Mandible gets temporarily stuck between
clavicle and sternum
Oligohydramnios
Tongue remains high in oral cavity
Cleft palate results from failed closure of palatal shelves
U-shaped cleft palate (80%), can
have V-shaped (20%)
Typically no cleft lip
Airway compromise Associated syndromes

Upper airway obstruction Stickler (18-25%)
Feeding, aspiration Velocardiofacial (7-15%)
Subglottic stenosis Treacher Collins (5%)
Hearing loss Hemifacial microsomia (3%)
Otitis media most common Mandibular catch up if
(60%) isolated sequence
Auricular malformation
Mixed hearing loss
(Tolarova, 2009)
Distraction osteogenesis
(Tolarova, 2009)
Intubation, tracheostomy Cleft palate repair

Stickler Syndrome
Autosomal dominant
Mutations of type II and XI collagen
COL2A1 gene on chromosome 12
COL11A1 and COL11A2 genes on chromosome 6
COL9A1 is rare recessive variant
Craniofacial, ocular, and
arthopathic features
Stickler Syndrome
Features
Flattened face
(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)

Ocular findings
Musculoskeletal
abnormalities
Cleft palate
Stickler Syndrome
Features
Short upturned
Midfacial
nose
hypoplasia
Micrognathia
(Poulson, 2004)
Long philtrum
(Tolarova, 2009)
Stickler Syndrome
Features
Ocular Musculoskeletal
Myopia Osteoarthritis
Glaucoma Joint hypermobility
Retinal detachment Abnormal epiphyseal
Cataracts development
Vertebral abnormalities
Scoliosis
Stickler Syndrome
Hearing loss
Mild to moderate sensorineural hearing loss (SNHL) in 80%
Significant SNHL or mixed hearing loss in 15%
Conductive component secondary to eustachian tube dysfunction from
cleft palate
Ossicular abnormalities may be present
Pierre Robin sequence
Present in 25% of Stickler syndrome
Cleft palate
Micrognathia
(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)

Waardenburg Syndrome
Autosomal dominant
Multiple genes
PAX3 (Types 1 and 3)
MITF, SNAI2 (Type 2)
EDN3, EDNRB, SOX10 (Type 4)
Autosomal recessive for Type 4
Variable penetrance

Hearing loss
Dystopia canthorum
Pigmentary abnormalities
Features
Dystopia canthorum
Flat nasal root
Hypoplastic nasal alae
Synophyrs
Heterochromia irides
Isohypochromia irides
White forelock
Vitiligo
Cleft lip and palate (10%)
(Schwartz, 2010)
Features
Synophyrs
White forelock Hypoplastic alae Short philtrum
Heterochromia irides Flat nasal

root
Dystopia canthorum
Isohypochromia irides
(Schwartz, 2010)
Features
Major Minor
Heterochromia irides Congenital leucoderma
White forelock Synophyrs
Dystopia canthorum Broad high nasal root
Congenital sensorineural Hypoplastic nasal alae
hearing loss Premature graying hair
Affected first-degree relative
Diagnosis
Major Minor
Heterochromia irides Congenital leucoderma
White forelock Synophyrs
Dystopia canthorum
Diagnosis Broad high nasal root
Congenital sensorineural Hypoplastic nasal alae
2 major features
hearing loss Premature graying hair
1 major features + 2 minor features
Affected first-degree relative
Subtypes
Type 1
Full symptomatology
Facial asymmetry, dysmorphic facies
Type 2
No dystopia canthorum, white forelock less common
Sensorineural hearing loss, heterochomia irides
Type 3 (Klein-Waardenburg syndrome)
Similar to Type 1 but with skeletal anomalies and mental retardation
Rib aplasia, cystic sacrum, cutaneous syndactyly
(Schwartz, 2010)
Type 4 (Shah-Waardenburg syndrome)
Association with Hirschsprung disease
Subtypes
Type 1
Full symptomatology
Facial asymmetry, abnormal facies
Type 2
Subtypes
Type 1
Full symptomatology
Type 2
Rib aplasia, amyoplasia, cystic sacrum, cutaneous syndactyly
Subtypes
Type 1
Full symptomatology
Type 2
Congenital sensorineural deafness

Typically not progressive
Hearing amplification
Cochlear implantation
Cleft lip or palate repair
Cosmetic considerations
Beckwith-Wiedemann
Syndrome
Imprinting defect at chromosome 11p15
Most cases are sporadic
Autosomal dominant familial inheritance in 15%
Most common overgrowth syndrome in infancy
Five common features
Macroglossia
Macrosomia
Midline abdominal wall defect
Ear pits/creases
Neonatal hypoglycemia

Beckwith-Wiedemann
Syndrome
Imprinting defect at chromosome 11p15
Most cases are sporadic
Autosomal dominant familial inheritance in 15%
Most common overgrowth syndrome in infancy
Five common features
Macroglossia
Macrosomia
Midline abdominal wall defect
Ear pits/creases
Neonatal hypoglycemia
Beckwith-Wiedemann
Features
Macroglossia Midline abdominal defect
(courtesy of Dr. Hutchinson

via Maria Blazo, M.D.)
Macrosomia Ear pits/creases
Beckwith-Wiedemann
Features
Major
Midline abdominal defect
Macroglossia
Macrosomia
Ear pits/creases
Adrenocortical cytomegaly
Renal abnormalities
Embryonal tumors
Cleft palate (rare)
Hemihyperplasia
Beckwith-Wiedemann
Features
Major Minor
Midline abdominal defect Neonatal hypoglycemia
Macroglossia Polyhydramnios
Macrosomia Prematurity
Ear pits/creases Facial nevus flammeus
Adrenocortical cytomegaly Hemangioma
Renal abnormalities Characteristic facies (i.e.
Embryonal tumors midface hypoplasia)
Cleft palate (rare) Cardiac anomalies
Hemihyperplasia Diastasis recti
Advanced bone age
Beckwith-Wiedemann
Diagnosis
Major Minor
Midline abdominal defect Neonatal hypoglycemia
Macroglossia Polyhydramnios
Macrosomia
Diagnosis Prematurity
Ear pits/creases Facial nevus flammeus

At least 2 common features
Adrenocortical cytomegaly Hemangioma
3 major features
Renal abnormalities Characteristic facies (i.e.

2 major
Embryonal tumorsfeatures + 3 minor features
midface hypoplasia)
Cleft palate (rare) Cardiac anomalies
Hemihyperplasia Diastasis recti
Advanced bone age

Beckwith-Wiedemann
Macroglossia
Airway obstruction,
feeding difficulty
Less noticeable with age
Increased risk of malignancy
Wilms tumor
Hepatoblastoma
Surveillance
Abdominal ultrasound every 3 months until 8 years
Alpha-fetoprotein every 6 weeks until 4 years
Neurofibromatosis
Type 1 (von Recklinghausen)
Peripheral neurofibromatosis
Autosomal dominant
Neurofibromin gene (NF1) on chromosome 17
Half result from de novo mutation
Variable expression
Better prognosis than Neurofibromatosis
Type 2
(courtesy of Dr. Hutchinson via
Maria Blazo, M.D.)
(Dahl, 2010)
Neurofibromatosis, Type 1
Features
Caf au lait spots

Cutaneous neurofibromas
Plexiform neuromas
Lisch nodules
Axillary or perineum
freckling (Crowe sign)
Optic gliomas
Bone abnormalities
Features
Cutaneous neurofibomas Caf au lait spots Axillary freckling

(courtesy of Dr. Hutchinson
via Maria Blazo, M.D.)
(Dahl, 2010)
Plexiform neuroma Optic glioma Lisch nodules
Long bone bowing
Diagnosis
Six or more caf au lait macules

Diameter larger than 5mm in prepubescent
Diameter larger than 15mm in adults
Two or more neurofibromas or one
plexiform neurofibroma
(Nazareth, 2010)
Axillary or inguinal freckling
Optic glioma
Two or more Lisch nodules
Distinctive osseous lesion
First-degree relative with condition
Neurofibromatosis
Type 2
Central neurofibromatosis
Autosomal dominant
NF2 (Merlin) gene on chromosome 22
Approximately 10% of all individuals with
neurofibromatosis
Significant morbidity, decreased
lifespan
Paucity of caf au lait spots and
Crowe sign
(Pletcher, 2010)

Spinal cord
Meningiomas
Nonvestibular
Features
Schwannomas
Caf au lait spots
Subcapsular cataracts
Bilateral acoustic neuromas
Kutz JW Jr, Roland PS, Isaacson B. Skull base, acoustic

neuroma (vestibular schwannoma): multimedia.
eMedicine 24 Sep 2009. Accessed 5 Nov 2010
<http://emedicine.medscape.com/article/882876-media>.
Diagnosis
Bilateral vestibular schwannomas

Presumptive Suggestive
Affected first-degree relative Unilateral vestibular
Unilateral vestibular schwannoma
schwannoma Two of the following:
Or two of the following: Meningioma
Meningioma Glioma
Glioma Schwannoma
Schwannoma Juvenile posterior subcapsular
Juvenile posterior subcapsular or cortical cataract
or cortical cataract Or multiple meningiomas
Klippel-Feil Syndrome
(Brevicollis, Wildervanck)
Cervical vertebral fusion

Type I single level
Type II multiple, noncontiguous segments
Type III multiple, contiguous segments
Short, webbed neck and low hairline
Unclear etiology
Associated abnormalities
Sprengel deformity
Scoliosis
Facial asymmetry
Renal abnormalities
(Sullivan, 2009)
Other Syndromes
Without Craniofacial Features
Yeah
Usher Yeah
Yeah
Hearing loss with defective inner ear
Type I deafness and vestibular dysfunction
Type II nonprogressive hearing loss and normal vestibular function
Type III progressive hearing loss and half vestibular function
Progressive vision loss from retinitis pigmentosa
Pendred
Sensorineural hearing loss
Thyroid goiter
Jervell and Lange-Neilsen
Defective potassium channel from KCNQ1 and KCNE1
mutations
Sensorineural hearing loss and palpitations (long QT syndrome)
Conclusion
Many syndromes will

present to the
otolaryngologist
Warrant otolaryngological
intervention
Attention to coexisting
conditions
Many affected individuals
are aware of the social
stigma related to their
condition http://www.explosm.net/comics
References
Admiraal RJ, et al. Hearing impairment in Stickler syndrome. Adv Otorhinolaryngol 2002; 61:216-23.
Bailey BJ, Johnson JT, Newlands SD, eds. Head and Neck Surgery Otolaryngology, 4th Ed. Philadelphia:
Lippincott, 2006. pp 1311-2,1380-6,2794.
Breugem CC, Courtemanche DJ. Robin sequence: clearing nosologic confusion. Cleft Palate Craniofac J
2010; 47:197-200.
Chen H. Apert syndrome. eMedicine 2 Sep 2009. Accessed 12 Oct 2010
<http://emedicine.medscape.com/article/941723-overview>.
Chen H. Crouzon syndrome. eMedicine 10 Sep 2009. Accessed 12 Oct 2010
Chen H. Down syndrome. eMedicine 22 Mar 2010. Accessed 31 Oct 2010
Crawford AH, Schorry EK. Neurofibromatosis update. J Pediatr Orthop 2006; 26:413-23.
Dahl AA, Grostern RJ. Neurofibromatosis-1. eMedicine 21 May 2010. Accessed 5 Nov 2010
DeBaun MR, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann
syndrome with cancer and birth defects. Am J Hum Genet 2002; 70:604-11.
DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith
Wiedemann Syndrome Registry. J Pediatr 1998; 132:398-400.
DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of
neurofibromatosis 1 in children. Pediatrics 2000; 105(3 Pt 1):608-14.
References
Dourmishev AL, Janniger CK. Down syndrome. eMedicine 1 Jul 2009. Accessed 4 Nov 2010
Dourmishev LA, Janniger CK. Waardenburg syndrome. eMedicine 2 Jun 2009. Accessed 30 Oct 2010
Elliott M, et al. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new
cases. Clinical Genetics 1994; 46:168-74.
Farrer LA, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near
ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet 1992; 50:902-13.
Ferry RJ. Beckwith-Wiedemann syndrome. eMedicine 15 Apr 2010. Accessed 23 Oct 2010
Flint PW, et al, eds. Cummings Otolaryngology: Head and Neck Surgery, 5th Ed. Philadelphia: Mosby
Elsevier, 2010. ch 147, 184.
Gould HJ, Caldarelli DD. Hearing and otopathology in Apert syndrome. Archives of Otolaryngology 1982;
108:347-9.
Gonalves LF, Espinoza J, Lee W, et al. Phenotypic characteristics of absent and hypoplastic nasal bones in
fetuses with Down syndrome: description by 3-dimensional ultrasonography and clinical significance. J
Ultrasound Med 2004; 23:1619-27.
Handzic J, et al. Hearing levels in Pierre Robin syndrome. Cleft Palate Craniofac J 1995; 32:30-6.
Hata T, Todd MM. Cervical spine considerationswhen anesthesizing patients with Down syndrome.
Anesthesiology 2005; 102:680-5.
References
Heike CL, Hing AV. Craniofacial microsomia review. Gene Review. Eds. Pagon RA, et al. 19 Mar 2009.
Accessed 23 Oct 2010 <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=m-hfm-ov>.
Horgan JE, et al. OMENS-plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial
microsomia. Cleft Palate Craniofac J 1995; 32:405-12.
Jackson IT, Malhotra G. Congenital syndromes. eMedicine 2 Jul 2009. Accessed 12 Oct 2010
Jakobsen LP, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J 2006; 43:155-9.
Lee KJ, ed. Essential Otolaryngology Head and Neck Surgery, 9th Ed. New York: McGraw Hill, 2008. pp
139-59.
Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am
J Med Genet 1995; 55:95-100.
Nazareth MR, Helm TN. Neurofibromatosis. eMedicine 16 Jun 2010. Accessed 5 Nov 2010
Nowak CB. Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord 1998; 31:437-54.
Orvidas LJ, et al. Hearing and otopathology in Crouzon syndrome. Layrngoscope 1999; 109:1372-5.
Peterson-Falzone SJ, Hardin-Jones MA, Karnell MP. Cleft Palate Speech, 4th Ed. St. Louis: Mosby, 2010.
Pletcher BA. Neurofibromatosis, type 2. eMedicine 3 Mar 2010. Accessed 5 Nov 2010
Poulson AV, et al. Clinical features of type 2 Stickler syndrome. J Med Genet 2004; 41:e107.
References
Pron G, et al. Ear malformation and hearing loss in patients with Treacher Collins syndrome. Cleft Palate
Craniofac J 1993; 30:97-103.
Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. Gene Review. Eds.
Pagon RA, et al. 27 Sept 2007. Accessed 19 Oct 2010
<http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis>.
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Common Otolaryngological

Visual Synopsis of Classic Syndromes and

Special appreciation to Dr. Hutchinson for his

All clinical photos are presented solely for

Absent nasal bones

Transient myeloproliferative disorder

(courtesy of Dr. Pine)

Cranial synostosis Exophthalmos Hypertelorism

Psittichorhina Hypoplastic maxilla

Hearing loss in 1/3 of cases

Surgical craniofacial reconstruction

(Shah AR, Danahey DG. Distraction Osteogenesis of the Maxilla.

(courtesy of Dr. Hutchinson)

Apert = Crouzon + Syndactyly

Conductive hearing loss

Also known as Franceschetti-Zwahlen-Klein syndrome

Characteristic facial dysmorphia

Downward slanting Malar hypoplasia Hypoplastic supraorbital rims

(courtesy of Dr. Hutchinson)

Downward slanting Malar hypoplasia Hypoplastic supraorbital rims

(courtesy of Dr. Hutchinson)

Surgical craniofacial reconstruction

Hemifacial microsomia Upper eyelid

Microtia and preauricular tags/pits Epibulbar dermoid

syndrome. Cleft Palate-Craniofacial Journal 2005; 42:477-80.

Anderson PJ, David DJ. Spinal anomalies in Goldenhar

Soft tissue defect

Sequence of micrognathia, glossoptosis, and cleft palate

(courtesy of Dr. Hutchinson)

(courtesy of Dr. Hutchinson)

Airway compromise Associated syndromes

(courtesy of Dr. Hutchinson)

(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)

(courtesy of Dr. Hutchinson via Maria Blazo, M.D.)

(courtesy of Dr. Hutchinson)

White forelock Hypoplastic alae Short philtrum

Heterochromia irides Flat nasal

Congenital sensorineural deafness

(courtesy of Dr. Hutchinson)

Macroglossia Midline abdominal defect

(courtesy of Dr. Hutchinson

Ear pits/creases Facial nevus flammeus

Hemihyperplasia Diastasis recti

Advanced bone age

Caf au lait spots

Cutaneous neurofibomas Caf au lait spots Axillary freckling

Six or more caf au lait macules

Kutz JW Jr, Roland PS, Isaacson B. Skull base, acoustic

Bilateral vestibular schwannomas

Cervical vertebral fusion

Many syndromes will

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