The Coffin-Lowry syndrome

Abstract

The Coffin-Lowry syndrome is a well defined clinical entity in which affected males manifest severe mental retardation in association with characteristic dysmorphic features, whereas the phenotypic spectrum in females ranges from normality through minor dysmorphism to the full blown syndrome as seen in the male. The eponymous title is derived from publications in 1966 and 1971 by Coffin et al. and Lowry et al. respectively. Initially the disorder was referred to as 'the syndrome of Coffin, Siris and Wegenkia' and Coffin's syndrome', with the term 'Coffin-Lowry syndrome' first being used by Temtamy et al. in 1975. This condition is not particularly rare. Over 50 cases have been reported in families of European, Asian, and African origin.