《英文msh詞典》Hunermann Conradi Syndrome
[入口詞] Hunermann Conradi Syndrome
[主題詞] Chondrodysplasia Punctata
[英文釋義] 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.