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

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...

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Veröffentlicht in:Human genetics 1996-04, Vol.97 (4), p.540-542
Hauptverfasser: DUNDAR, M, ERKILIC, K, DEMIRYILMAZ, F, KÜCÜKAYDIN, M, KENDIRCI, M, OKUR, H, KAZEZ, A
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple
Biological and medical sciences
Child, Preschool
Esophagus - abnormalities
Face - abnormalities
Humans
Lacrimal Apparatus - abnormalities
Larynx - abnormalities
Male
Malformations of the eye
Medical sciences
Ophthalmology
Syndrome
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Zusammenfassung: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF02267083