Boog G, Le Vaillant C, Joubert M
Department of Obstetrics and Perinatal Medicine, University of Nantes, Nantes, France.
Ultrasound Obstet Gynecol. 2005 Jun;25(6):602-6. doi: 10.1002/uog.1910.
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.
彼得斯综合征是一种由于眼前房分裂缺陷导致的先天性疾病。彼得斯附加综合征（PpS）的特征是具有彼得斯综合征典型的眼部异常，并伴有生长发育受损、智力迟钝和其他畸形。我们报告了一对近亲夫妇20周胎儿中PpS的首例产前描述。超声检查显示小眼畸形、眼前部高回声并伴有中央缺损、小颌畸形和长人中、四肢短小且末端宽阔以及单侧多囊肾。经父母要求终止了妊娠。尸检，包括仔细的眼部检查，确诊为PpS。PpS具有常染色体隐性遗传模式。眼部异常与PAX6、PITX2、PITX3和CYP1B1基因的突变有关，但PpS的致病因素仍然未知。
