CORNELIA DE LANGE SYNDROME
\kɔːnˈiːli͡ə də lˈand͡ʒ sˈɪndɹə͡ʊm], \kɔːnˈiːliə də lˈandʒ sˈɪndɹəʊm], \k_ɔː_n_ˈiː_l_iə 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
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].