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 | M Dundar, K Erkihç, F Demiryilmaz, M Küçükaydin, M Kendirci, H Okur, A Kazez |
Journal | Human genetics
(Hum Genet)
Vol. 97
Issue 4
Pg. 540-2
(Apr 1996)
ISSN: 0340-6717 [Print] Germany |
PMID | 8834259
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
- Child, Preschool
- Esophagus
(abnormalities)
- Face
(abnormalities)
- Humans
- Lacrimal Apparatus
(abnormalities)
- Larynx
(abnormalities)
- Male
- Syndrome
|