RESUMEN
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.
Asunto(s)
Facies , Salud de la Familia , Hidrocefalia/genética , Espacio Subaracnoideo/anomalías , Adulto , Preescolar , Femenino , Genes Dominantes/genética , Humanos , Masculino , Espacio Subaracnoideo/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (SRS): ocular hypotelorism, cleft palate, hypospadias (only in the child), and microcephaly. This observation documents for the first time a male to male transmission and therefore confirms that the SRS is inherited as an autosomal dominant trait with variable expressivity.