STIPPLED EPIPHYSES
\stˈɪpə͡ld ˈɛpɪfˌa͡ɪzɪz], \stˈɪpəld ˈɛpɪfˌaɪzɪz], \s_t_ˈɪ_p_əl_d ˈɛ_p_ɪ_f_ˌaɪ_z_ɪ_z]\
Sort: Oldest first
-
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.
By DataStellar Co., Ltd
