title: Congenital alacrima in a patient with G (Opitz Frias) syndrome.
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, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.
authors.affiliation: Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.forename: K
authors.initials: K
authors.lastname: Erkihç
authors.forename: F
authors.initials: F
authors.lastname: Demiryilmaz
authors.forename: M
authors.initials: M
authors.lastname: Küçükaydin
authors.forename: M
authors.initials: M
authors.lastname: Kendirci
authors.forename: H
authors.initials: H
authors.lastname: Okur
authors.forename: A
authors.initials: A
authors.lastname: Kazez
mesh_terms: 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