A woman with phenylketonuria that is poorly controlled before and during pregnancy may have children with a number of congenital malformaions.
Findings in an infant born to a mother with poorly controlled phenylketonuria:
(1) microcephaly
(2) facial anomalies
(3) congenital heart disease
(4) mental retardation and/or developmental delay
(5) small for gestational age due to intra-uterine growth retardation
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Specialty: Pedatrics, Pharmacology, clinical
ICD-10: ,