Congenital alacrima in a patient with G (Opitz frias) syndrome


Dundar M. , Erkilic K. , Demiryılmaz F., Kucukaydin M., Kendirci M. , Okur H. , ...More

HUMAN GENETICS, vol.97, no.4, pp.540-542, 1996 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 97 Issue: 4
  • Publication Date: 1996
  • Doi Number: 10.1007/bf02267083
  • Title of Journal : HUMAN GENETICS
  • Page Numbers: pp.540-542

Abstract

Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, strider, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.