Literature DB >> 16970034

Otocephaly, and pulmonary malformation association: two case reports.

S Puvabanditsin1, E Garrow, S Umaru, J Padilla, S Chowdawarapu, A Biswas.   

Abstract

Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.

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Year:  2006        PMID: 16970034

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


  2 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

2.  Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Authors:  Nicole Meier; Elisabeth Bruder; Peter Miny; Sevgi Tercanli; Isabel Filges
Journal:  Mol Genet Genomic Med       Date:  2020-02-26       Impact factor: 2.183

  2 in total

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