A 12-year-old male was admitted with postaxial polydactyly on the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry. Investigations confirmed the diagnosis of a congenital disease, Goldenhar's syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance.
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References
1.
GorlinRJPindborgJJ. Oculoauriculovertebral dysplasia. In: Syndromes of the head and neck. New York: McGraw-Hill, 1964:546–52.
2.
SmithDW. Facio-auriculovertebral spectrum. In: Smith's recognizable patterns of human malformation. 4th ed.Philadelphia: Saunders, 1988:584–7.
3.
RegenbogenLGodelVGoyaVGoodmanRM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet1982;21: 161–7.
4.
StanojevicMStipoljevFKoprcinaBKurjakA. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?J Craniofac Genet Dev Biol2000;20: 150–4.
5.
GibsonJNSillenceDOTaylorTK. Abnormalities of the spine in Goldenhar's syndrome. J Pediatr Orthop1996;16: 344–9.
6.
FriedmanSSaraclarM. The high frequency of congenital heart disease in oculo-auriculo-vertebral dysplasia (Goldenhar's syndrome). J Pediatr1974;85: 873–4.
7.
NakajimaHGotoGTanakaNAshiyaHIbukiyamaC. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J1998;62: 617–20.
8.
ScholtzAWFishJHIIIKammen-JollyKIchikiHHusslBKreczyAGoldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol2001;22: 501–5.
