Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome

Am J Med Genet. 1988 Dec;31(4):863-70. doi: 10.1002/ajmg.1320310420.

Abstract

A syndrome characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias in males was found in ten relatives over five generations of a family. Other anomalies are blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes. Autosomal dominant inheritance is likely.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anthropometry
  • Child
  • Child, Preschool
  • Cleft Palate / genetics*
  • Dermatoglyphics
  • Eye Abnormalities*
  • Female
  • Genes, Dominant
  • Humans
  • Hypospadias / genetics*
  • Infant
  • Male
  • Pedigree