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Chondrodysplasia Punctata
Chondrodystrophia Calcificans Congenita | Conradi-Hunermann Syndrome | Dysplasia Epiphysialis Punctata | Epiphyses, Stippled | Stippled Epiphyses | Hunermann-Conradi Syndrome | Conradi Hunermann Syndrome | Hunermann Conradi Syndrome
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. |
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