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四代同堂的印度家族性交叉多指(趾)畸形。

Familial crossed polysyndactyly in four generations of an Indian family.

机构信息

Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, 110096, Delhi, India.

出版信息

World J Pediatr. 2010 May;6(2):177-80. doi: 10.1007/s12519-010-0020-7. Epub 2010 Feb 1.

Abstract

BACKGROUND

Polydactyly is the most common malformation of the limbs. "Crossed" polydactyly of hands and feet, i.e., preaxial in one and postaxial in the other, is extremely rare. It has not been included in the standard classification of hand and feet anomalies.

METHODS

We report an Indian family with 7 affected members across 4 generations who had "crossed polysyndactyly". All but one affected member had involvement of all four limbs. There were no other congenital anomalies in any of the family members.

RESULTS

Familial crossed polysyndactyly appeared to follow an autosomal dominant transmission. This is probably the first case of familial crossed polysyndactyly without any associated anomalies.

CONCLUSION

Familial crossed polysyndactyly is a rare malformation and all family members should be screened for other congenital malformations.

摘要

背景

多指畸形是最常见的肢体畸形。手和脚的“交叉”多指畸形,即一只手为桡侧多指,另一只手为尺侧多指,极为罕见。它尚未被纳入手部和足部畸形的标准分类中。

方法

我们报告了一个跨越 4 代的印度家族,共有 7 名受累成员,均患有“交叉性并指畸形”。除了 1 名受累成员外,所有成员的四肢均受累。家族中的任何成员均无其他先天性异常。

结果

家族性交叉性并指畸形似乎遵循常染色体显性遗传。这可能是首例无任何相关异常的家族性交叉性并指畸形病例。

结论

家族性交叉性并指畸形是一种罕见的畸形,所有家族成员均应筛查其他先天性畸形。

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