Recessive spondylocostal dysostosis: two new cases

Clin Genet. 1978 Mar;13(3):289-94. doi: 10.1111/j.1399-0004.1978.tb01183.x.


Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Child
  • Female
  • Genes, Recessive
  • Humans
  • Ossification, Heterotopic
  • Radiography
  • Ribs* / diagnostic imaging
  • Spinal Diseases / diagnostic imaging
  • Spinal Diseases / genetics*
  • Spine / diagnostic imaging