BRACHMANN DE LANGE SYNDROME
\bɹˈakman də lˈand͡ʒ sˈɪndɹə͡ʊm], \bɹˈakman də lˈandʒ sˈɪndɹəʊm], \b_ɹ_ˈa_k_m_a_n d_ə l_ˈa_n_dʒ s_ˈɪ_n_d_ɹ_əʊ_m]\
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A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
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Word of the day
TMP
- 5-Thymidylic acid. A thymine nucleotide containing one phosphate group esterified to the deoxyribose moiety.