A New Dominant Gene Mental Retardation Syndrome
- 1 June 1971
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 121 (6) , 496-500
- https://doi.org/10.1001/archpedi.1971.02100170078009
Abstract
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.Keywords
This publication has 2 references indexed in Scilit:
- Genetic Counseling in Mental RetardationPediatric Clinics of North America, 1968
- Taking the family historyThe American Journal of Medicine, 1963