A case of otocephaly with anencephaly and meningomyelocele

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

Genetic Counseling, cilt.21, sa.3, ss.325-328, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 3
  • Basım Tarihi: 2010
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.325-328
  • Anahtar Kelimeler: Otocephaly, Anencephaly, Meningomyelocele, MALFORMATION ASSOCIATION, SITUS-INVERSUS, AGNATHIA
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.