Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry

Am J Med Genet. 1994 Jul 1;51(3):203-12. doi: 10.1002/ajmg.1320510306.

Abstract

We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA patterns of unknown cause. Cases with SCD were preferentially associated with caudal dysgenesis, diaphragmatic hernia, and central nervous system anomalies.

Publication types

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

MeSH terms

  • Abnormalities, Multiple*
  • Central Nervous System / abnormalities*
  • Coccyx / abnormalities
  • Dysostoses / congenital*
  • Female
  • Hernia, Diaphragmatic
  • Humans
  • Infant, Newborn
  • Male
  • Registries
  • Ribs / abnormalities*
  • Spain
  • Spine / abnormalities*