Spondylocostal dysostosis: dominant type

Am J Med Genet. 1990 Feb;35(2):219-21. doi: 10.1002/ajmg.1320350215.

Abstract

We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Dysostoses / diagnosis*
  • Dysostoses / diagnostic imaging
  • Dysostoses / genetics
  • Female
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Lumbar Vertebrae / abnormalities*
  • Male
  • Radiography
  • Ribs / abnormalities*
  • Thoracic Vertebrae / abnormalities*