Prieto X-Linked Mental Retardation Syndrome

Clinical Features

Prieto et al. (1987) described 8 males in 3 sibships who had a growth syndrome characterized by mental retardation, facial dysmorphism, abnormal dental growth, skin dimple at the lower back, clinodactyly, patella luxation, and subcortical cerebral atrophy.

Inheritance

Prieto et al. (1987) noted that the pedigree pattern in their family with a mental retardation syndrome was consistent with X-linked recessive inheritance.

Mapping

In a study of the same Spanish family reported by Prieto et al. (1987), Watty et al. (1991) concluded that the locus may lie between DXS255 (at Xp11.22) and DXS84 (at Xp21.1).