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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.
AuthorsM Dundar, K Erkihç, F Demiryilmaz, M Küçükaydin, M Kendirci, H Okur, A Kazez
JournalHuman genetics (Hum Genet) Vol. 97 Issue 4 Pg. 540-2 (Apr 1996) ISSN: 0340-6717 [Print] Germany
PMID8834259 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple
  • Child, Preschool
  • Esophagus (abnormalities)
  • Face (abnormalities)
  • Humans
  • Lacrimal Apparatus (abnormalities)
  • Larynx (abnormalities)
  • Male
  • Syndrome

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