Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects

Clin Dysmorphol. 1994 Apr;3(2):171-4.

Abstract

We report a fetus with severe mandibulofacial dysostosis (MFD), postaxial hand defects, talipes equinovarus and extensive vertebral segmentation defects. This constellation may represent a distinct postaxial acrofacial dysostosis syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / embryology*
  • Abnormalities, Multiple / genetics
  • Face / abnormalities*
  • Fetus / abnormalities*
  • Hand / embryology
  • Humans
  • Karyotyping
  • Male
  • Spine / abnormalities*