Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

Eur J Med Genet. 2007 Jan-Feb;50(1):85-91. doi: 10.1016/j.ejmg.2006.08.001. Epub 2006 Sep 9.

Abstract

Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anal Canal / abnormalities*
  • Dysostoses / genetics
  • Dysostoses / pathology*
  • Fetus / abnormalities
  • Humans
  • Ribs / abnormalities
  • Spine / abnormalities
  • Syndrome
  • Urogenital Abnormalities / genetics*