New X-linked syndrome with severe mental retardation,severely impaired vision,severe hearing defect,epileptic seizures,spasticity, restricted joint mobility,and early death

A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome. © 1993 Wiley-Liss, Inc.