Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism

Clin Dysmorphol. 2000 Apr;9(2):111-4. doi: 10.1097/00019605-200009020-00007.

Abstract

We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Body Height
  • Facial Bones / abnormalities*
  • Facies
  • Female
  • Fingers / abnormalities*
  • Genes, Recessive
  • Hand Deformities, Congenital / genetics
  • Hand Deformities, Congenital / pathology*
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Karyotyping
  • Phenotype