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

Dundar, MUNİS; Erkilic, KUDDUSİ; Demiryılmaz, F; Kucukaydin, Mustafa; Kendirci, MUSTAFA; Okur, Hamit; Kazez, Ahmet

doi:10.1007/bf02267083

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, Scopus)

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.