Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia / 대한산부인과학회지

Otocephaly is a rare malformations comprising hypoplasia or absence of the mandible (agnathia), ventromedial displacement and often fusion of external ears (synotia or otocephaly), and hypoplasia of the oral cavity (microstomia) and tongue (hypoglassia). This developmental complex represents a malformation of the first and second branchial arches and occurs sometimes with holoprosencephaly. We present the ultrasound detection of otocephaly and holoprosencephaly with cyclopia in a fetus of 27 gestational weeks 6 days. The use of three-dimensional (3-D) ultrasound made additional diagnostic ultrasound tomograms possible, and the volume reconstructions improved the imaging and the understanding of the condition.