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hypotonia |
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These include abnormal or high-pitched cry, hypothermia, poor temperature control, sweating, poor suck or refusal to feed, tremors, exaggerated Moro's reflex, irritability, lethargy, hypotonia, seizures, cyanosis, pallor, tachypnoea, apnoea, abnormal eye movements, tachycardia, congestive heart failure and respiratory distress. Clinical manifestations include muscle weakness, hypotonia, delayed motor development, and severe contractures with consequent joint deformities. Five or more of the major clinical criteria must be present, including: (a) infantile hypotonia that gradually improves, (b) feeding problems in infancy, (c) excessive and rapid weight gain after one year but before six years, (d) atypical facial features, including narrow face, almond shaped eyes, and small mouth, (e) hypogonadism with delayed maturation, (f) mild to moderate mental retardation, (g) hyperphagia, food foraging, and an obsession with food, and (h) chromosomal abnormality. |
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