Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes?
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.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Dereymaeker
A M
AM
Haegeman
J
J
van den Berghe
H
H
D000328:Adult; D001827:Body Height; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome