June 1971

A New Dominant Gene Mental Retardation SyndromeAssociation With Small Stature, Tapering Fingers, Characteristic Facies, and Possible Hydrocephalus

Author Affiliations

Vancouver, British Columbia; Montreal
From the Division of Medical Genetics, Department of Paediatrics, University of British Columbia, Vancouver (Drs. Lowry and Miller); and the Department of Medical Genetics, the Montreal Children's Hospital (Dr. Fraser).

Am J Dis Child. 1971;121(6):496-500. doi:10.1001/archpedi.1971.02100170078009

Many members of one family have a unique syndrome of mental retardation, small stature, retarded bone age, hypotonia, tapering fingers, a characteristic facies which includes hypertelorism, upturned nares, and prominent frontal region, and possibly arrested hydrocephalus. The evidence suggests an autosomal dominant gene with variable expressivity as the cause of the syndrome.