Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

Am J Med Genet. 1981;8(1):117-27. doi: 10.1002/ajmg.1320080114.


Spondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.

Publication types

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

MeSH terms

  • Anus, Imperforate / genetics*
  • Bone Diseases, Developmental / genetics*
  • Consanguinity
  • Genes, Recessive
  • Pedigree
  • Spine / abnormalities*
  • Syndrome
  • Urogenital Abnormalities*