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.
Procopis PG, Turner B. Mental Retardation, Abnormal Fingers, and Skeletal Anomalies: Coffin's Syndrome. Am J Dis Child. 1972;124(2):258–261. doi:10.1001/archpedi.1972.02110140108016
Customize your JAMA Network experience by selecting one or more topics from the list below.