Literature DB >> 20964124

A case of otocephaly with anencephaly and meningomyelocele.

T Tos1, S Ceylaner, S Senel, S Aktas, Y Alp.   

Abstract

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.

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Year:  2010        PMID: 20964124

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

Review 1.  Re-focusing on Agnathia-Otocephaly complex.

Authors:  C Dubucs; N Chassaing; C Sergi; M Aubert-Mucca; T Attié-Bitach; D Lacombe; C Thauvin-Robinet; S Arpin; M J Perez; C Cabrol; C P Chen; J Aziza; E Colin; J Martinovic; P Calvas; Julie Plaisancié
Journal:  Clin Oral Investig       Date:  2020-07-09       Impact factor: 3.573

  1 in total

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