Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children

Abstract

Seven boys and two girls are described whose clinical features have been sufficiently similar to constitute a syndrome that is probably commoner than the published material suggests. At birth, the patients are invariably floppy, feed poorly, and in the boys have underdeveloped scrotums and impalpable testicles. Development is slow due to mental retardation, while obesity is obvious at about the age of 3 to 4 years. The facial appearance is remarkably similar. In some of them scoliosis is a feature, and after puberty they are liable to diabetes. Their chromosomes are normal. As the number of abnormalities constituting this syndrome is so large it seems probable that subgroups will be recognized eventually. However, at the moment this does not seem possible on either an aetiological or a pathological basis.