Additional case of opsismodysplasia supporting autosomal recessive inheritance

Am J Med Genet. 1994 Feb 1;49(3):344-7. doi: 10.1002/ajmg.1320490321.


The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Child, Preschool
  • Consanguinity
  • Facial Bones / abnormalities
  • Genes, Recessive
  • Humans
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / genetics
  • Respiratory Tract Infections / etiology
  • Skull / abnormalities