Dictionary > Stippled epiphysis

Stippled epiphysis

stippled epiphysis –>
dysplasia epiphysialis punctata
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.

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