Cutis Verticis Gyrata And Mental Retardation

Clinical Features

McDowall (1893) first described the association of cutis verticis gyrata (CVG) and mental retardation. Akesson (1964) found 47 cases in a survey of persons with mental retardation who were institutionalized in Sweden. Also see Rosenthal-Kloepfer syndrome (102100).

Musumeci et al. (1991) suggested an association with chromosome fragile sites in 3 patients with cutis verticis gyrata. Dahir et al. (1992) found 1 case of CVG among 200 mentally retarded institutionalized males. Cytogenetic studies showed no fragile sites and specifically did not show the Xq27.3 or 10q25 fragile sites observed by Musumeci et al. (1991). Musumeci (1992) pointed out that Schepis et al. (1990) found primary CVG in 4.5% of 494 institutionalized psychiatric patients (21 males and 1 female). Nine of the 21 had chromosomal fragile sites.