HAPPY PUPPET SYNDROME
\hˈapi pˈʌpɪt sˈɪndɹə͡ʊm], \hˈapi pˈʌpɪt sˈɪndɹəʊm], \h_ˈa_p_i p_ˈʌ_p_ɪ_t s_ˈɪ_n_d_ɹ_əʊ_m]\
Definitions of HAPPY PUPPET SYNDROME
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A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80 (4):385-90; Hum Mol Genet 1999 Jan;8 (1):129-35)
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