Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report
Autor: | Neerja Gupta, Anita Kaul, Madhulika Kabra |
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Jazyk: | angličtina |
Rok vydání: | 2013 |
Předmět: | |
Zdroj: | Case Reports in Genetics, Vol 2013 (2013) |
Druh dokumentu: | article |
ISSN: | 2090-6544 2090-6552 |
DOI: | 10.1155/2013/364529 |
Popis: | 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. |
Databáze: | Directory of Open Access Journals |
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