CONRADI HUNERMANN SYNDROME
\kənɹˈadɪ hjˈuːnəmˌan sˈɪndɹə͡ʊm], \kənɹˈadɪ hjˈuːnəmˌan sˈɪndɹəʊm], \k_ə_n_ɹ_ˈa_d_ɪ h_j_ˈuː_n_ə_m_ˌa_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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
