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拉森综合征的面部特征和骨骼异常——对一个突尼斯家庭三代人的研究

Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family.

作者信息

Al-Kaissi Ali, Ammar Chokri, Ben Ghachem Maher Ben, Hammou Azza, Chehida Farid B

机构信息

Sevice d'Orthopaedie infantile, Hopital d'Enfants de Tunis, Tunisia.

出版信息

Swiss Med Wkly. 2003 Dec 13;133(45-46):625-8. doi: 10.4414/smw.2003.10281.

Abstract

We report on a 3 generation study of a Tunisian family, in which eight subjects had or have features of Larsen syndrome: three siblings, two females and one male are affected with flattened facies, multiple congenital joint dislocations, and club foot deformities. Five other family members were recognised as being variably affected with the syndrome. Over the three generations, despite the characteristic facial features being the most constant clinical signs of the syndrome, none of those still living had palatal clefts, the multiple infantile deaths in this family, however, were characterised by an association with cleft palate.

摘要

我们报告了一个突尼斯家庭的三代研究情况,其中八名受试者具有拉森综合征的特征:三名兄弟姐妹,两女一男,均有面部扁平、多处先天性关节脱位和马蹄内翻足畸形。另外五名家庭成员被认为不同程度地受该综合征影响。在三代人中,尽管特征性面部特征是该综合征最常见的临床体征,但在世的人中没有腭裂患者,不过这个家庭中多例婴儿死亡都伴有腭裂。

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