Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?

Eur J Hum Genet. 1998 Jan;6(1):71-4. doi: 10.1038/sj.ejhg.5200154.

Abstract

We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular syndrome. Some developmental genes that may have played a role in the pathogenesis are briefly reviewed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Ear / abnormalities*
  • Ear / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Micrognathism / genetics*
  • Ribs / abnormalities*
  • Ribs / pathology