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

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

HUMAN GENETICS, cilt.97, sa.4, ss.540-542, 1996 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 97 Sayı: 4
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1007/bf02267083
  • Dergi Adı: HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.540-542
  • Erciyes Üniversitesi Adresli: Evet

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.