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

Hum Genet. 1996 Apr;97(4):540-2. doi: 10.1007/BF02267083.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Esophagus / abnormalities
  • Face / abnormalities
  • Humans
  • Lacrimal Apparatus / abnormalities*
  • Larynx / abnormalities
  • Male
  • Syndrome