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Article

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations - 1 Mar 2021

Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez M J, Cabrol C, Chen C P, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié Julie

Abstract excerpt

OBJECTIVES: Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia with aglossia. This severe anomaly of the first branchial arch is most often lethal. The estimated incidence is less than 1 in 70.000 births, with etiologies linked to both genetic and teratogenic factors. Most of the cases are sporadic. To date, two genes...

Topics

Animals
Craniofacial Abnormalities
Humans
Jaw Abnormalities
Mice
Mutation
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32643087
DOI: 10.1007/s00784-020-03443-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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