Chondrodysplasia Punctata |
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| Hunermann-Conradi Syndrome; Conradi Hunermann Syndrome; Hunermann Conradi Syndrome; Syndrome, Conradi-Hunermann; Syndrome, Hunermann-Conradi | |
| 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. | |