Mental Retardation, Abnormal Fingers, and Skeletal Anomalies: Coffin's Syndrome

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.