Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report
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...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/364529 |
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| author | Neerja Gupta Anita Kaul Madhulika Kabra |
| author_facet | Neerja Gupta Anita Kaul Madhulika Kabra |
| author_sort | Neerja Gupta |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b03ae0345ca5440daa7450c5bb9ed48b |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-b03ae0345ca5440daa7450c5bb9ed48b2025-02-03T01:10:11ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/364529364529Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case ReportNeerja Gupta0Anita Kaul1Madhulika Kabra2Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, IndiaFetal Medicine Unit, Indraprastha Apollo Hospital, New Delhi, IndiaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, IndiaPeters’ 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.http://dx.doi.org/10.1155/2013/364529 |
| spellingShingle | Neerja Gupta Anita Kaul Madhulika Kabra Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report Case Reports in Genetics |
| title | Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report |
| title_full | Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report |
| title_fullStr | Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report |
| title_full_unstemmed | Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report |
| title_short | Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report |
| title_sort | prenatal diagnosis of fetal peters plus syndrome a case report |
| url | http://dx.doi.org/10.1155/2013/364529 |
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