Tos T, Ceylaner S, Senel S, Aktas S, Alp Y
Department of Genetics, Dr. Sami Ulus Maternity and Children's Hospital, Ankara, Turkey.
Genet Couns. 2010;21(3):325-8.
A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.
耳头联胎是一种罕见的致死性综合征，主要临床特征为小口、无舌、无颌及并耳，病因是第一鳃弓发育停滞。可能伴有一些相关畸形，如独眼畸形、前脑无裂畸形、小脑发育不全、内脏反位及其他内脏畸形。我们描述了一例妊娠14周自然流产的胎儿，患有耳头联胎综合征（无颌、并耳、小口），并伴有无脑儿和脊髓脊膜膨出。
