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Prenatal diagnosis of fetal peters' plus syndrome: a case report.

ABSTRACT: 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.

SUBMITTER: Gupta N

PROVIDER: S-EPMC3745879 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Prenatal diagnosis of fetal peters' plus syndrome: a case report.

Gupta Neerja N Kaul Anita A Kabra Madhulika M

Case reports in genetics 20130729

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. ...[more]

PMID: 23984120

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