Prenatal diagnosis of restrictive dermopathy

Indian Pediatr. 2009 Apr;46(4):349-51.

Abstract

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Contracture / congenital
  • Contracture / diagnosis*
  • Female
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Metalloendopeptidases / genetics*
  • Mutation / genetics*
  • Prenatal Diagnosis*
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics*

Substances

  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human