Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

NeerjaGupta; AnitaKaul; MadhulikaKabra

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Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

机译：胎儿彼得斯综合征的产前诊断：病例报告。

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Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

机译：彼得斯氏综合症是一种罕见但临床上可识别的常染色体隐性遗传基因综合征。胎儿生命期间的诊断具有挑战性，因为发育迟缓的胎儿存在非特异性发现，例如脑室肥大。我们报告了印度的第一例胎儿彼得斯综合症，那里的胎儿超声检查和家族史有助于提供诊断线索，后来通过DNA分析得到了证实。

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《Case Reports in Genetics》 |2013年第1期|共3页
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NeerjaGupta; AnitaKaul; MadhulikaKabra;
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Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

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