Congenital alacrima in a patient with G (Opitz Frias) syndrome.
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, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.
Dundar
M
M
Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
Erkihç
K
K
Demiryilmaz
F
F
Küçükaydin
M
M
Kendirci
M
M
Okur
H
H
Kazez
A
A
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D004947:Esophagus / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D007830:Larynx / Q000002:abnormalities; D008297:Male; D013577:Syndrome