Mental Retardation, Microcephaly, Epilepsy, And Coarse Face

Clinical Features

Battaglia et al. (1996) reported a brother and sister with microcephaly, mental retardation, coarse facial features, hirsutism, epilepsy (resistant to medication in the brother, but well controlled in the sister), scoliosis, and retarded bone age. Metabolic screening was normal in both sibs. Battaglia et al. (1996) considered this complex to be a new autosomal recessive multiple congenital anomalies/mental retardation syndrome different from Coffin-Lowry syndrome (303600).