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Human Genetics

, Volume 97, Issue 4, pp 540–542 | Cite as

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

  • Munis Dundar
  • Kuddusi Erkiliç
  • Fatma Demiryilmaz
  • Mustafa Küçükaydin
  • Mustafa Kendirci
  • Hamit Okur
  • Ahmet Kazez
Original Investigation

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.

Keywords

Internal Medicine Metabolic Disease Hypospadias Autosomal Dominant Disorder Epithelial Erosion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Munis Dundar
    • 1
  • Kuddusi Erkiliç
    • 2
  • Fatma Demiryilmaz
    • 1
  • Mustafa Küçükaydin
    • 3
  • Mustafa Kendirci
    • 4
  • Hamit Okur
    • 3
  • Ahmet Kazez
    • 3
  1. 1.Department of Medical Genetics, School of MedicineErciyes UniversityKayseriTurkey
  2. 2.Department of Ophthalmology, School of MedicineErciyes UniversityKayseriTurkey
  3. 3.Department of Pediatric Surgery, School of MedicineErciyes UniversityKayseriTurkey
  4. 4.Department of Pediatrics, School of MedicineErciyes UniversityKayseriTurkey

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