Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature.

Kazuhiro Kajiwara,Chie Nagata,Aikou Okamoto,Tomohiro Tanemoto

doi:10.1155/2016/8512351

Abstract

Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment.

Highlights

Agnathia-otocephaly is an extremely rare lethal anomaly characterized by absence of the mandible [1,2,3,4]
Prenatal diagnosis of agnathia is important for providing prompt counseling to the parents because most affected infants die soon after birth
We report a case of isolated agnathia that was diagnosed in the third trimester

Summary

Introduction

Agnathia-otocephaly is an extremely rare lethal anomaly characterized by absence of the mandible [1,2,3,4]. Prenatal diagnosis of agnathia is important for providing prompt counseling to the parents because most affected infants die soon after birth. A screening method for this condition has not been established. Diagnosis tends to be delayed because of the absence of polyhydramnios in the second trimester. 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. We conducted a literature review on the prenatal diagnosis of agnathia to shed light on the clinical course and characteristics of the condition

Case Report

Discussion