Epiphyses,Stippled

《英文msh詞典》Epiphyses,Stippled
[同義詞] Epiphyses,Stippled
[主題詞] Chondrodysplasia Punctata
[中文釋義] 骨骺,點狀
[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.