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chondrodystrophia <embryology, orthopaedics> A disturbance in the development of cartilage, primarily the long bones. This can result in arrested growth and dwarfism.
(15 Jan 1998)
chondrodystrophia calcificans congenita A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form.
Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis.
(05 Mar 2000)
chondrodystrophia congenita punctata Congenital shortening of the humerus and femur, with stippled epiphyses, high-arched palate, cataracts, erythroderma in the newborn, and scaling followed by follicular atrophoderma; there is also an autosomal dominant inheritance pattern .
Synonym: chondrodystrophia congenita punctata.
(05 Mar 2000)
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