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Three women with phenylketonuria have produced 3 infants with lethal congenital anomalies and 10 biochemically normal but mentally retarded children.
These children, exposed to abnormal levels of phenylalanine in utero, have lifelong impairment of growth and development. Decreased brain growth results in absent or greatly diminished convolutional markings and sometimes premature sclerosis of the sutures.
Radiologic measurement of the skull is less useful than simple measurement of head circumference.
Recognition and genetic counselling are necessary, for otherwise maternal phenylketonuria will be an increasingly common cause of mental retardation.
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