Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia

Am J Med Genet. 1982 Sep;13(1):7-14. doi: 10.1002/ajmg.1320130105.

Abstract

We report two sporadic cases with a previously undescribed skeletal dysplasia lethal in the neonatal period. The syndrome is characterized clinically by striking rhizomelic shortness of the limbs and radiographically by absence or hypoplasia of the humeri, hypoplastic vertebrae, absent fibulae and ossification in only the distal phalanges of the hands. Morphologic studies show hypocellular areas of growth plate cartilage containing occasional multinucleated giant cells.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Cartilage / pathology
  • Female
  • Femur / abnormalities*
  • Humans
  • Humerus / abnormalities*
  • Infant, Newborn
  • Infant, Premature
  • Osteochondrodysplasias / pathology*
  • Polyhydramnios / complications
  • Pregnancy
  • Spine / abnormalities*
  • Syndrome