Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance

Am J Med Genet. 1999 Mar 5;83(1):47-52. doi: 10.1002/(sici)1096-8628(19990305)83:1<47::aid-ajmg9>;2-5.


We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in the hypertrophic area of growth cartilage. This observation supports the hypothesis of autosomal recessive transmission of opsismodysplasia.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Cartilage / abnormalities*
  • Cartilage / anatomy & histology
  • Collagen / immunology
  • Consanguinity*
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Limb Deformities, Congenital / genetics
  • Male
  • Pedigree
  • Prenatal Diagnosis
  • Radiography


  • Collagen