| 单词 | Hunermann-Conradi Syndrome |
| 释义 | Hunermann-Conradi Syndrome《英文msh词典》Hunermann-Conradi Syndrome [入口词] Hunermann-Conradi Syndrome [主题词] Chondrodysplasia Punctata [英文释义] 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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