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[猫眼综合征相关的臂裂异常]

[Associated brachial cleft anomalies in the cat eye syndrome].

作者信息

Avior Galit, Derowe Ari, Fliss Dan M, Leicear-Trejo Leonor, Braverman Itzhak

机构信息

Unit of Otolaryngology Head & Neck Surgery, Hillel-Yaffe Medical Center.

出版信息

Harefuah. 2007 Feb;146(2):99-101, 166-7.

Abstract

The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

摘要

猫眼综合征是一种先天性畸形,通常与肛门闭锁、眼裂、下斜眼、小眼症、眼距过宽、斜视、耳前赘生物或瘘管、先天性心脏缺陷尤其是间隔缺损、泌尿系统异常、骨骼异常有关,且常伴有智力和身体发育迟缓。存在一条小的额外染色体(比21号染色体小),通常有两个着丝粒,有双随体,代表一条inv dup 22(q11)。一名两岁女性因猫眼综合征合并耳前赘生物及第一鳃弓异常就诊于我科。本文讨论了猫眼综合征的外科治疗以及它与第一鳃裂异常之间的关联。

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