Skeletal manifestations in Fryns syndrome

Am J Med Genet. 1995 Jan 16;55(2):217-20. doi: 10.1002/ajmg.1320550213.

Abstract

We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Adult
  • Bone and Bones / abnormalities*
  • Face / abnormalities
  • Female
  • Hernia, Diaphragmatic / genetics
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Lung / abnormalities
  • Syndrome