POIKILODERMA CONGENITALE
\pˈɔ͡ɪkɪlˌə͡ʊdəmə kənd͡ʒˈɛnɪtˌe͡ɪl], \pˈɔɪkɪlˌəʊdəmə kəndʒˈɛnɪtˌeɪl], \p_ˈɔɪ_k_ɪ_l_ˌəʊ_d_ə_m_ə k_ə_n_dʒ_ˈɛ_n_ɪ_t_ˌeɪ_l]\
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An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism.
By DataStellar Co., Ltd
