Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia.

Kim, Min Jeoung; Kim, Hyo Jin; Ha, Min Jeoung; Moon, Jeoung Min; Ji, Eun Young; Park, In Yang; Hur, Soo Young; Lee, Gui Sera; Shin, Joung Chul; Kim, Sa Jin

Case Report

Korean Journal of Obstetrics & Gynecology 2005;48(10):2422-2427.
Published online October 1, 2005.

Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia.

Min Jeoung Kim, Hyo Jin Kim, Min Jeoung Ha, Jeoung Min Moon, Eun Young Ji, In Yang Park, Soo Young Hur, Gui Sera Lee, Joung Chul Shin, Sa Jin Kim

Department of Obstetrics and Gynecology, College of Medicine, Catholic University of Korea. ksajin@catholic.ac.kr

Abstract

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.

Key Words: Otocephaly, Holoprosencephaly, Cyclopia, Three-dimensional (3-D) ultrasound