Geleophysic dysplasia

Am J Med Genet. 1990 Feb;35(2):153-6. doi: 10.1002/ajmg.1320350202.


We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Child
  • Consanguinity
  • Facial Expression*
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics
  • Growth Disorders / pathology*
  • Heart Defects, Congenital / diagnosis
  • Humans
  • Hypertelorism / diagnosis
  • Infant
  • Liver / pathology
  • Male