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.
Díaz-Rodríguez
M
M
División de Genética, Centro de Investigación Biomédica de Occidente-Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Becerra-Solano
L E
LE
Toscano-Flores
J J
JJ
Bañuelos-Robles
O
O
Durán-González
J
J
Ramírez Dueñas
M L
ML
D000328:Adult; D002675:Child, Preschool; D019066:Facies; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008297:Male; D013346:Subarachnoid Space / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed