Goldenhar's syndrome associated with multiple congenital abnormalities

Abstract

Goldenhar's syndrome is characterized by a combination of dermal epibulbar cysts, auricular appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar's syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this syndrome is 5-58 per cent. Although the etiology of this disease is not fully understood, autosomal recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies. © The Author [2005]. Published by Oxford University Press. All rights reserved.