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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...

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Identifiers

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

Genes

OTX2
PRRX1
CNBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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