Prenatal Diagnosis of Isolated Agnathia-Otocephaly
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Agnathia-otocephaly is an extremely rare lethal anomaly characterized by absence of the mandible. Prenatal diagnosis of agnathia is important for providing prompt counseling to the parents because most affected infants die soon after birth. However, a screening method for this condition has not been established. Furthermore, diagnosis tends to be delayed because of the absence of polyhydramnios in the second trimester. Here, we report a case of isolated agnathia that was diagnosed in the third trimester. Because of a delay incurred by the parents in making a decision for postnatal treatment, emergency cesarean section was necessary. Additionally, we conducted a literature review on the prenatal diagnosis of agnathia to shed light on the clinical course and characteristics of the condition....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989077/
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