Abidi X-Linked Mental Retardation Syndrome

Clinical Features

Abidi et al. (1999) reported a family with X-linked mental retardation in which there were 8 affected males in 3 generations. Somatic manifestations were variable and mild; these included short stature (4 of 8), small head circumference (5 of 8), sloping forehead (5 of 8), hearing loss (3 of 8), cupped ears (2 of 8), and small testes (4 of 6). The somatic manifestations were sufficiently variable to limit their usefulness in clinical diagnosis of this disorder.

Mapping

By linkage studies in a family with a syndromic form of mental retardation, Abidi et al. (1999) obtained a lod score of 4.41 with zero recombination at locus DXS1166 in Xq13.2. Given the broad range of somatic manifestations, the authors concluded that further molecular study of other X-linked mental retardation entities with similar clinical manifestations will be necessary to determine if this entity is allelic to them.