A new X-linked mental retardation syndrome

Abstract

There are now more than 70 X-linked mental retardation syndromes associated with physical findings documented in McKusick's "Mendelian Inheritance in Man". We describe a boy and his maternal uncle who appear to have a previously unreported X-linked mental retardation syndrome, consisting of moderate mental retardation, coarse facial features, epilepsy and slowly progressive joint contractures.