title: Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002356:Cartilage / Q000473:pathology; D004687:Enchondromatosis / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital*; D013131:Spine / Q000002:abnormalities*