A case of otocephaly with anencephaly and meningomyelocele

Tos T., CEYLANER S., Senel S., Aktas S., Alp Y.

Genetic Counseling, vol.21, no.3, pp.325-328, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 3
  • Publication Date: 2010
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.325-328
  • Keywords: Otocephaly, Anencephaly, Meningomyelocele, MALFORMATION ASSOCIATION, SITUS-INVERSUS, AGNATHIA
  • Lokman Hekim University Affiliated: No


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.