Cerebral Malformation, Seizures, Hypertrichosis, And Overlapping Fingers

Muller et al. (1993) described a brother and sister, the offspring of first-cousin Kurdish parents, with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of cerebral malformations, seizures, hypertrichosis, distinctive facies, claw hands, and overlapping fingers. Karyotype was normal in both sibs. The brother died in a tonic extension spasm at age 4 months; the sister was alive at age 3.5 months.