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


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

HUMAN GENETICS, cilt.97, ss.540-542, 1996 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 97 Konu: 4
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1007/bf02267083
  • Dergi Adı: HUMAN GENETICS
  • Sayfa Sayısı: ss.540-542

Özet

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.