Cataracts, aberrant oral frenula, and growth retardation: a new autosomal dominant syndrome

Am J Med Genet. 1991 Sep 1;40(3):341-2. doi: 10.1002/ajmg.1320400319.

Abstract

We report on a mother and her two children with an autosomal dominant cataract syndrome with associated aberrant oral frenula, growth retardation, and specific facial appearance. Their phenotype differs from that of other reported cataract syndromes, and we conclude that this is a previously undescribed entity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cataract / genetics*
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Genes, Dominant
  • Growth Disorders / genetics*
  • Humans
  • Mouth / pathology*
  • Syndrome