Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae

Am J Med Genet. 1984 Sep;19(1):171-82. doi: 10.1002/ajmg.1320190117.


The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Cartilage / pathology
  • Enchondromatosis / congenital*
  • Enchondromatosis / diagnosis
  • Enchondromatosis / pathology
  • Female
  • Hand Deformities, Congenital*
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / congenital*
  • Spine / abnormalities*