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彼得斯异常作为遗传和非遗传综合征的结果。

Peters' anomaly as a consequence of genetic and nongenetic syndromes.

作者信息

Kivlin J D, Fineman R M, Crandall A S, Olson R J

出版信息

Arch Ophthalmol. 1986 Jan;104(1):61-4. doi: 10.1001/archopht.1986.01050130071022.

Abstract

A new syndrome includes Peters' anomaly and short-limbed dwarfism. A balanced chromosomal translocation in the brother (patient 1) appears to be coincidental to the physical abnormalities, because his sister (patient 2) has identical findings but normal fibroblast and lymphocyte karyotypes. Peters' anomaly, which includes corneal clouding, iris and/or lens adhesions to the cornea, and the absence of endothelium and Descemet's membrane, is often associated with systemic abnormalities. Since there are different genetic and nongenetic systemic conditions that include Peters' anomaly, and there are several ocular syndromes with features overlapping this disorder, we believe that Peters' anomaly is a morphologic finding rather than a distinct entity.

摘要

一种新的综合征包括彼得斯异常和短肢侏儒症。哥哥(患者1)的平衡染色体易位似乎与身体异常巧合,因为他的妹妹(患者2)有相同的表现,但成纤维细胞和淋巴细胞核型正常。彼得斯异常包括角膜混浊、虹膜和/或晶状体与角膜粘连,以及内皮和后弹力层缺失,常与全身异常相关。由于存在包括彼得斯异常在内的不同遗传和非遗传全身疾病,并且有几种眼部综合征具有与该疾病重叠的特征,我们认为彼得斯异常是一种形态学表现而非一个独特的实体。

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