Benign familial macrocephaly in a mother-son pair.

Abstract

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.

• Authors: M Díaz-Rodríguez, L E Becerra-Solano, J J Toscano-Flores, O Bañuelos-Robles, J Durán-González, M L Ramírez Dueñas
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 21 Issue 1 Pg. 85-9 ( 2010) ISSN: 1015-8146 [Print] Switzerland
• PMID: 20420034 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Child, Preschool
• Facies
• Family Health
• Female
• Genes, Dominant (genetics)
• Humans
• Hydrocephalus (genetics)
• Male
• Subarachnoid Space (abnormalities, diagnostic imaging)
• Tomography, X-Ray Computed