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Nasomaxillary Hypoplasia and Severe Orofacial Clefting in a Child of a Mother with Phenylketonuria
Author(s) -
Sweeney E.,
Fryer A.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015102320233
Subject(s) - microcephaly , medicine , hypoplasia , offspring , pediatrics , congenital malformations , endocrinology , pregnancy , genetics , biology
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.