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

Autor: Neerja Gupta, Anita Kaul, Madhulika Kabra
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