Trisomy 13 Syndrome in a Full-Term Neonate
Masoumeh Mobaraki, Batool Kamalimanesh, Nasrin Parsaei-Mehr
Abstract
Cyclopia is characterized by the presence of a single or divided eye in one orbit in the midline of the face. Maternal exposure to certain medications and environmental factors have been found as the risk factors of this malformation. Cyclopia can be associated with genetic syndromes such as trisomy 13. Prenatal screening can help detect cyclopia; however, some families refuse to undergo diagnostic workups or take genetic counseling, which can result in missed cases.
We present a case of a neonate with cyclopia who was born to a 26-year-old woman who had previously given birth to children with lethal malformations. This report highlights the importance of genetic counseling for families with a history of children being born with multiple anomalies.
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