Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.
暂无分享,去创建一个
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.
[1] G. S. Coffin,et al. Mental Retardation With Osteocartilaginous Anomalies , 1966 .
[2] B. Turner,et al. JUVENILE AMAUROTIC IDIOCY: LYMPHOCYTE ABNORMALITY IN THE PERIPHERAL BLOOD. , 1962, The Medical journal of Australia.
[3] U. Mittwoch. Abnormal Lymphocytes in Gargoylism , 1959, British journal of haematology.