Nasomaxillary Hypoplasia and Severe Orofacial Clefting in a Child of a Mother with Phenylketonuria

The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital heart defects and developmental delay (Rouse et al 1997). We report a child born to a mother with poorly controlled PKU and suggests that the facial abnormalities seen in this child could be part of the spectrum of maternal PKU embryopathy.