《英文msh词典》Epiphyses,Stippled
[同义词] Epiphyses,Stippled
[主题词] Chondrodysplasia Punctata
[中文释义] 骨骺,点状
[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.