Goldenhar's syndrome associated with multiple congenital abnormalities

J Trop Pediatr. 2005 Dec;51(6):377-9. doi: 10.1093/tropej/fmi020. Epub 2005 Sep 26.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Brain / pathology
  • Eye Abnormalities / pathology
  • Facial Asymmetry / pathology
  • Goldenhar Syndrome / pathology*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant
  • Male