Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?

Eur J Pediatr. 1976 Aug 16;123(1):39-42. doi: 10.1007/BF00497678.

Abstract

We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be recessively inherited syndrome

Publication types

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

MeSH terms

  • Cleft Palate / complications*
  • Dwarfism / complications
  • Encephalocele / complications
  • Female
  • Hirsutism / complications
  • Humans
  • Hydrocephalus / complications
  • Infant, Newborn
  • Micrognathism / complications*
  • Osteochondrodysplasias / complications*
  • Syndrome