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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