doi: 10.1016/s0022-3476(84)80995-6.
Maternal hyperphenylalaninemia fetal effects
- PMID: 6694013
- DOI: 10.1016/s0022-3476(84)80995-6
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Maternal hyperphenylalaninemia fetal effects
J Pediatr.
1984 Feb.
Abstract
Thirty-four children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance. Maternal hyperphenylalaninemia appears to be teratogenic, with a variability related to the blood phenylalanine concentration.
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