Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters: A new entity among the mental retardation‐macrocephaly syndromes?

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Abstract
In this report we describe a true macrocephaly-mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation-macrocephaly association is reviewed and discussed.

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