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Mental retardation associated with myopathy, facial malformation, and seizures.

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Puerto Rican Infant Hypotonia Syndrome.

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Three cases have been described; genetic inheritance unknown.

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Features include myopathy, (congenital fiber type disproportion, i.e., type I muscle fibers are significantly smaller than type II fibers (normally about the same size), and a predominance of type I fibers by numbers (normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism, broad nasal root, long philtrum, mouth held open, high-arched and narrow palate, microdontia), delayed bone age with abnormal ossification, pectus excavatum, seizures, and mental retardation.

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Direct laryngoscopy and tracheal intubation could be difficult because of facial malformations. Avoid anesthetic muscle relaxants until the airway has been secured. Evaluate neurological function (clinical, history, CT/MRI, EEG). Consider interaction between antiepileptic treatment and anesthetic drugs. Evaluate myopathy (history, clinical, creatine phosphokinase); avoid succinylcholine and halogenated drugs. Reduce neuromuscular blocking agent doses because of hypotonia and use a peripheral nerve stimulator.

Qazi QH, Markouizos D, Rao C, et al: A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. J Med Genet 31(5):405, 1994.

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