47 Goldenhar Syndrome
Goldenhar Syndrome 719
Oculo-auriculo-vertebral spectrum,
oculo-auriculo-vertebral dysplasia, OAV dysplasia, hemifacial microsomia
Unilateral deformity of the external ear, ipsilateral hemifacial microsomia, epibulbar lipodermoid, verte- bral anomalies
Frequency: 1 in 25,000 births. Male-to-female ratio and ratio of right-to-left-sided involvement = 3 : 2
Genetics
Usually sporadic; genetically heterogeneous, rare in- stances of autosomal dominant inheritance (OMIM 164210); one disease-locus mapped to 14q32.
Clinical Features
• Facial asymmetry, hemifacial microsomia (right side involved in over 60%)
• Microphthalmia or anophthalmia, blepharoptosis, retinal abnormalities, upper eyelid coloboma, epibulbar tumors (dermoid, lipodermoid, dermis- like)
• Macrostomia (35%), mandibular hypoplasia
• Unilateral ear deformity ranging from a mildly dysmorphic ear to anotia (over 65%), preauricular tags or sinuses (over 40%), external auditory canal atresia, deafness
• Defects of vertebrae and ribs
• Defects of CNS (encephalocele, hydrocephaly, Arnold-Chiari malformation, holoprosencephaly, hypoplasia of corpus callosum, etc.), heart (ven- tricular septal defects, tetralogy of Fallot, transpo- sition of great vessels, etc.), kidney (renal aplasia, crossed renal ectopia, double ureter, etc.), trachea and lung (tracheo-esophageal fistula, pulmonary hypoplasia/aplasia), gastrointestinal system (im- perforate anus, situs inversus)
Differential Diagnosis
• VATER association
• Branchio-oto-renal (BOR) syndrome
• Townes-Brocks syndrome
Radiographic Features Skull
• Unilateral hypoplasia/aplasia of mandibular ra- mus and condyle, ipsilateral hypoplasia of maxil- la, temporal bone, and orbit
• Skull defects, cranium bifidum
• Microcephaly, dolichocephaly, unilateral plagio- cephaly
• Platybasia
• Atresia or narrowing of external and internal auditory canals, absent ossicle chains
Spine
• Blocked cervical vertebrae (60%), Klippel-Feil anomaly
• Hemivertebrae, butterfly vertebrae, fused and hypoplastic vertebrae
• Spina bifida
• Occipitalization of the atlas Chest
• Rib anomalies (agenesis, bifidity, fusion, supernu- merary)
Extremities
• Talipes equinovarus (20%)
• Radial ray deficiency (10%)
G
Bibliography
Cohen MM Jr, Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 1989; 26:
276–86
Gibson JN, Sillence DO, Taylor TK. Abnormalities of the spine in Goldenhar’s syndrome. J Pediatr Orthop 1996; 16: 344–9 Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculo-
vertebral dysplasia. J Pediatr 1963; 63: 991–9
Johnson KA, Fairhurst J, Clarke NM. Oculoauriculovertebral spectrum: new manifestations. Pediatr Radiol 1995; 25:
446–8
Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Al- bert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner- Glindzicz M. Hemifacial microsomia: progress in under- standing the genetic basis of a complex malformation syn- drome. Hum Genet 2001; 109: 638-45
Lin HJ, Owens TR, Sinow RM, Fu PC Jr, deVito A, Beall MH, Lachman RS. Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: review of Goldenhar complex and malformations of left-right asymmetry. Am J Med Genet 1998; 75: 88–94
Regenbogen L, Godel V, Goya V, Goodman RM. Further evi- dence for an autosomal dominant form of oculoauriculo- vertebral dysplasia. Clin Genet 1982; 21: 161–7
Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO.
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26:
361–75
Wilson GN. Cranial defects in the Goldenhar syndrome. Am J Med Genet 1983; 14: 435–43
Goldenhar Syndrome 720
Fig. 47.1. aPatient 1, age 2 years: facial asymmetry with hemi- facial microsomia. b Patient 2, age 3 years: hemifacial microso- mia, ipsilateral hypoplastic ear with external auditory canal
atresia. c Patient 3, age 9 years: facial asymmetry, micro- phthalmia, severe microtia, and deafness. d Patient 4: epibulbar lipodermoid
a b
c d
Goldenhar Syndrome 721
Fig. 47.2 a, b. Patient 5, age 2 weeks. Note right-sided hypoplasia of maxilla and mandible, and cleft palate G
a b
Fig. 47.3. a Patient 6, newborn. A lateral hemivertebra resulting in cervical spine scoliosis is seen. Note aplasia of left clavicle and asymmetrical first ribs.
bPatient 5, age 2 weeks. Multiple vertebral segmentation anomalies are seen in the cervical and thoracic spine, associated with rib segmentation defects (upper right)
a
b
