Agnathia-otocephaly: Prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report

Abstract

A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal horizontal position of the ears. 2D ultrasound performed at 25 weeks of gestation revealed agnathia, proboscis and hypotelorism. 3D ultrasound (rendering mode) and magnetic resonance imaging were used to evaluate the facial features, and were essential for characterization of facial malformations in otocephaly and for the demonstration and correct prenatal counseling of the couple.