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Title: Benign familial macrocephaly in a mother-son pair
Author: Diaz-Rodriguez, M.
Becerra-Solano, L.E.
Toscano-Flores, J.J.
Banuelos-Robles, O.
Duran-Gonzalez, J.
Duenas, M.L.R.
Issue Date: 2010
Abstract: Benign familial macrocephaly in a mother-son pair: Macrocephaly can be found isolated or associated with other anomalies as a part of specific syndrome. Benign Familial Macrocephaly (BFM) is a primary macrocephaly and autosomal dominant and multifactorial inheritances had been proposed. Cole and Hughes (5), described clinically seven patients. We report two BFM cases, a boy and his mother. The male propositus showed macrocephaly with dolicocephaly shape, frontal bossing, narrowing biparietal and a square-shaped face. Neurological examination was normal. He had two computed tomography (CT) scans of the skull, one at 7 months of age showing extracerebral fluid collection in the anterior convexity and increased interhemispheric subarachnoid space and a second normal CT scan at 3 years of age. The mother showed macrocephaly with dolycocephaly shape and dished-out mid-face. This family exhibited the full clinical spectrum of BFM, with an autosomal dominant inheritance.
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