The Coffin-Lowry syndrome.

The Coffin-Lowry syndrome is a well defined clinical entity in which affected males manifest severe mental retardation in association with charac- teristic dysmorphic features, whereas the pheno- typic 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 all and Lowry et a12 respectively. Initially the disorder was referred to as 'the syndrome of Coffin, Siris and Wegenkia'3 and 'Coffin's syn- drome',4 with the term 'Coffin-Lowry syndrome' first being used by Temtamy et a15 in 1975. This condition is not particularly rare. Over 50 cases have been reported in families of European,[1] Two unrelated sib- ships, each containing multiple affected members, have been encountered in Leicestershire which has a population of approximately 850 000.