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家族性埃布斯坦畸形:两代人中6例报告,并伴有轻度骨骼异常。

Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.

作者信息

Balaji S, Dennis N R, Keeton B R

机构信息

Department of Paediatric Cardiology, Southampton General Hospital.

出版信息

Br Heart J. 1991 Jul;66(1):26-8. doi: 10.1136/hrt.66.1.26.

Abstract

In a family of 11 persons in three generations six had Ebstein's anomaly. Five of the six showed mild skeletal anomalies--that is, restricted finger extension, with or without limitation of larger joints, and externally rotated little toes. Two other members of the family had the skeletal features without Ebstein's anomaly. The findings suggest a dominantly inherited syndrome of Ebstein's anomaly and skeletal abnormalities. The four female patients were all mildly affected whereas three of the four male patients were severely affected.

摘要

在一个三代共11人的家族中,有6人患有埃布斯坦畸形。这6人中的5人表现出轻度骨骼异常,即手指伸展受限,伴或不伴有大关节活动受限,以及小趾外旋。该家族的另外两名成员有这些骨骼特征但无埃布斯坦畸形。这些发现提示存在一种埃布斯坦畸形与骨骼异常的显性遗传综合征。4名女性患者均为轻度受累,而4名男性患者中有3名严重受累。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4e9/1024561/4addf12b0294/brheartj00043-0031-a.jpg

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