GOLDENHAR SYNDROME
DEFINITION:
A disorder characterized by anomalies of the face, ears, eyes,
and vertebrae.
EPIDEMIOLOGY:
- incidence: 1:3,000-26,500
- age of onset:
- risk factors:
- sporadic and familial cases
- familial cases are consistent with autosomal dominant,
autosomal recessive, and multifactoral patterns of inheritance
- M>F (3:2)
PATHOGENESIS:
- first identified by M. Goldenhar, J. Genet. Hum. 1:243
(1952).
- first called Oculo-Auriculo-Vertebral Dysplasia by R.J.
Gorlin, J. Pediatr. 63:991-999 (1963).
- also called Oculo-Auriculo-Vertebral Anomaly,
Oculo-Auriculo-Vertebral Spectrum, Facio-Auriculo-Vertebral
Spectrum, First and Second Brachial Arch Syndrome,
Goldenhar-Gorlin Syndrome, Hemifacial Microsomia
2. Pathogenesis
- genetic defect -> abnormal neural crest morphology ->
malformation of the derivatives of the first and second brachial
arches -> facial, auricular, ocular, vertebral, and other
anomalies
- variable phenotypic expression is characteristic with this
syndrome and the spectrum of phenotypic anomalies can range from
mild to severe even within the same affected family
- may be present in monozygotic twins with only one twin being
affected
CLINICAL FEATURES:
- 65-70% of cases have some facial asymmetry and in 20% of
cases the asymmetry is marked
- the right side of the face is more severely affected in
60% of cases
- may become more evident during childhood
- 10-33% have bilateral facial involvement
- hypoplasia (underdevelopment) of the malar, maxillary,
and/or mandibular regions on the affected side
- may also be unilateral hypoplasia of the facial
musculature with facial muscle weakness and depressor anguli
oris hypoplasia on the affected side
2. Macrostomia
- greatly exaggerated width of the mouth due to a lateral
cleft-like extension of the corner of the mouth
- almost always unilateral and on the affected side
- may be associated with agenesis of the parotid gland with
diminished or absent parotid secretions
3. Other Manifestations
- micrognathia
- unilateral hypoplasia of the palate and/or tongue muscles
- cleft lip and/or palate in 7-15% of patients
- feeding difficulties
- obstructive sleep apnea
2. Ear Manifestations
- may range from mildly dystrophic ear to microtia to anotia
- preauricular skin tags, pits, and/or sinuses and occur
between the tragus and the angle of the mouth
- usually unilateral but bilateral in 33% of cases
2. Middle
- narrow or atretic external auditory canals
3. Inner
- conductive and/or sensorineural hearing loss
3. Ocular Manifestations
- dermoids or lipodermoids
- found in 35% of patients
- yellow or pink, solid ovoid masses up to 10 mm in diameter
- unilateral or bilateral
- may impair vision
2. Others
- strabismus
- microphthalmia or anophthalmia
- blepharophimosis in 10% of cases
- narrowing of the palpebral fissure
- retinal anomalies
- upper lid colobomas
4. Other Manifestations
- microcephaly or hydrocephaly
- occipital encephalocele
- Arnold-Chiari Malformation
- mental retardation in 5-15% of patients
- spina bifida
2. Congenital Heart Disease (in 5-58% of cases)
- Ventricular Septal Defect
- Patent Ductus Arteriosus
- Tetralogy of Fallot
- Coarctation of the Aorta
- Transposition of the Great Arteries
3. Renal
- ectopic and/or fused kidneys
- renal agenesis
- multicystic dysplastic kidneys
- hydronephrosis
- hydroureter
- ureteral duplication
- ureteropelvic junction obstruction
- vesicoureteral reflux +/- recurrent urinary tract
infections
4. Musculoskeletal
- scoliosis
- talipes equinovarus (clubfeet)
- bifed or digitalized thumb
INVESTIGATIONS:
- hypoplasia of the maxillary, temporal, and malar bones
- hypoplasia or absent mandibular ramus and condyle
- reduced pneumatization of the mastoid region
2. Vertebral
- cervical vertebral fusion in 20-25% of cases
- platybasia and occipitalization of the atlas in 30% of
cases
- Klippel-Feil anomaly
- hemivertebrae
- hypoplasia of the vertebrae
3. Others
- aplasia of the radius and/or thumb
- anomalous ribs
2. CT/MRI
- found occasionally:
- agenesis of or lipoma in the corpus callosum
- calcification of the falx cerebri
- hypoplastic septum pellucidum
- intracranial dermoid cyst
MANAGEMENT:
- multidisciplinary approach:
- Paediatrics, Plastic and Orthopedic Surgery,
Ophthalmology, ENT, Cardiology, Nephrology, Neurology, Speech
Therapy, Dental
- early and regular hearing tests
- genetic counselling
2. Prognosis
- would expect a normal life span and intelligence in a
majority of those patients without significant complications
ADDITIONAL REFERENCES:
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