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伴有软腭裂的猫眼综合征

Cat's eye syndrome with cleft soft palate.

作者信息

Nakamura K

出版信息

Ann Plast Surg. 1985 Jan;14(1):77-80. doi: 10.1097/00000637-198501000-00014.

Abstract

Cat's eye syndrome is a very rare disease with many congenital anomalies. Until the end of 1983, 35 cases had been reported, but only 5 cases were associated with cleft palate, and only 1 patient was operated on. A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome. The patient did not have anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, or renal or skeletal anomalies. The operation was performed on his cleft soft palate when he was 2.5 years old.

摘要

猫眼综合征是一种非常罕见的伴有多种先天性异常的疾病。截至1983年底,已报道35例,但仅有5例伴有腭裂,且仅1例接受了手术治疗。一名4岁男童患有虹膜脉络膜缺损、软腭裂、眼距增宽伴反蒙古样斜眼、内眦赘皮、听力缺陷、先天性心脏病(肺动静脉瘘)、智力和生长发育迟缓,以及一条47,XY + 标记染色体。该患者没有肛门闭锁、耳前皮肤赘生物、小眼畸形、鼻梁凹陷或肾脏或骨骼异常。他在2.5岁时接受了软腭裂修复手术。

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