《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.