Prenatal sonographic findings in Peters-plus syndrome
Prenatal sonographic findings in Peters-plus syndrome
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DOI：
10.1002/uog.1910
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发表时间：
2005-06-01
影响因子：
7.1
通讯作者：
Joubert, M
中科院分区：
文献类型：
--
作者：
Boog, G;Le Vaillant, C;Joubert, M
Peters综合征是一种先天性疾病，由眼前房的分裂缺陷引起。Peters-plus综合征（PpS）是以Peters综合征的典型眼部异常为特征，并伴有生长发育障碍、智力低下等畸形。我们报告的第一个产前描述PpS在20周的胎儿的一对近亲。超声检查显示小眼球和高回声性的前部的眼睛与中央缺损，小颌和长人中，四肢短，四肢宽和单侧多囊肾。应父母要求终止妊娠。尸检，包括仔细的眼部检查，确定了PpS的诊断。PpS具有常染色体隐性遗传模式。眼部异常与基因PAX 6、PITX 2、PITX 3和CYP 1B 1的突变有关，但PpS的致病因素仍不清楚。Copyright（c）2005 ISUOG.由John Wiley & Sons有限公司出版
Peters syndrome is a congenital disease resulting from deficient cleavage of the anterior chamber of the eye. Peters-plus syndrome (PpS) is characterized by the typical ocular anomalies of Peters syndrome in association with impaired growth, mental retardation and other malformations. We report the first prenatal description of PpS in the 20-week fetus of a consanguineous couple. Ultrasound examination revealed microphthalmia and hyperechogenicity of the anterior part of the eye with a central defect, micrognathia and long philtrum, short limbs with broad extremities and unilateral multicystic kidney. The pregnancy was terminated on parental request. Autopsy, including careful ocular examination, established the diagnosis of PpS. PpS has an autosomal-recessive mode of inheritance. The ocular anomaly has been linked with mutations in genes PAX6, PITX2, PITX3 and CYP1B1, but the causal factor of PpS remains unknown. Copyright (c) 2005 ISUOG. Published by John Wiley & Sons, Ltd.