The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia.
A 9-year-old boy from an incestuous union presented with mild clinical and roentgenological manifestations of pseudoachondroplasia. Tibial growth cartilage was obtained during a routine orthopedic procedure. Microscopic, histochemical and biochemical analysis showed changes identical to those of 6 sporadic cases of typical pseudoachondroplasia. The results support a concept of pathogenetic homogeneity of pseudoachondroplasia.
D000130:Achondroplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002356:Cartilage / Q000032:analysis / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D003241:Consanguinity; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D011509:Proteoglycans / Q000032:analysis; D011859:Radiography
D011509:Proteoglycans