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彼得斯综合征:一例罕见病例报告。

Peters'-Plus syndrome: report on an unusual case.

作者信息

Camera G, Pozzolo S, Carta M, Righi E

机构信息

Service for Clinical Genetics and Dysmorphology, Ospedali Galliera, Genova.

出版信息

Pathologica. 1994 Dec;86(6):673-5.

PMID:7617402
Abstract

We report on a 10 1/2-years-old patient with clinical manifestations of Peters'-Plus syndrome. The patient had Peters' anomaly, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, brachydactyly, fingertip pads, severe growth deficiency, and mild mental retardation. Peters' anomaly is a defect of the anterior chamber of the eye, including central corneal opacity, thinning of the posterior aspect of the cornea and iridolenticulocorneal adhesions. Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and mental retardation. Our patient showed Peters'-Plus syndrome associated with some clinical manifestations of the Kabuki make-up syndrome.

摘要

我们报告了一名10岁半患有彼得斯-普拉斯综合征临床表现的患者。该患者有彼得斯异常、眉毛略呈弓形、睫毛长、鼻尖宽阔;耳朵畸形且突出、唇腭裂、短指畸形、指尖垫、严重生长发育迟缓以及轻度智力障碍。彼得斯异常是眼前房的一种缺陷,包括中央角膜混浊、角膜后表面变薄以及虹膜晶状体角膜粘连。彼得斯-普拉斯综合征是一种疾病,其中患有彼得斯异常的患者还被发现有身材矮小、中面部短小、耳部异常、唇腭裂以及智力障碍。我们的患者表现出与歌舞伎综合征的一些临床表现相关的彼得斯-普拉斯综合征。

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