Mental Retardation, Abnormal Fingers, and Skeletal Anomalies: Coffin's Syndrome
- 1 August 1972
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 124 (2) , 258-261
- https://doi.org/10.1001/archpedi.1972.02110140108016
Abstract
A family with four severely mentally retarded male members who have odd facial features, broad tapering fingers, and abnormal skeletal development is described. Some female members of the kindred show a milder degree of mental retardation and less marked somatic features. Inheritance appears to be via a dominant trait with the possibility of X-linkage being present. No metabolic abnormality has been demonstrated.Keywords
This publication has 2 references indexed in Scilit:
- Mental Retardation With Osteocartilaginous AnomaliesArchives of Pediatrics & Adolescent Medicine, 1966
- Abnormal Lymphocytes in GargoylismBritish Journal of Haematology, 1959