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