Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

CT Gordon, F Petit, PM Kroisel, L Jakobsen… - The American Journal of …, 2013 - cell.com
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia
and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at …

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

N Vegas, Z Demir, CT Gordon, S Breton… - Human …, 2022 - Wiley Online Library
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by
mandibular hypoplasia and an auricular defect at the junction between the lobe and helix …

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

CT Gordon, A Vuillot, S Marlin, E Gerkes… - Journal of medical …, 2013 - jmg.bmj.com
Background Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of
micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the …

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

DE Clouthier, MR Passos‐Bueno… - American Journal of …, 2013 - Wiley Online Library
Among human birth defect syndromes, malformations affecting the face are perhaps the
most striking due to cultural and psychological expectations of facial shape. One such …

Respiratory and gastrointestinal dysfunctions associated with auriculo‐condylar syndrome and a homozygous PLCB4 loss‐of‐function mutation

C Leoni, CT Gordon, GD Marca… - American Journal of …, 2016 - Wiley Online Library
Auriculo‐Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized
by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint …

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

VL Romanelli Tavares, RM Zechi‐Ceide… - American Journal of …, 2017 - Wiley Online Library
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular
condyle, and question mark ears, is a rare disease segregating in an autosomal dominant …

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

C Masotti, KG Oliveira, F Poerner… - European journal of …, 2008 - nature.com
Abstract Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and
second pharyngeal arches, is characterized by malformed ears ('question mark ears') …

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

A Nabil, S El Shafei, NM El Shakankiri, A Habib… - European Journal of …, 2020 - Elsevier
Abstract Auriculocondylar syndrome (ARCND, MIM# 614669,# 602483, and# 615706); also
known as ''question-mark ear syndrome''or ''dysgnathia complex'', is a rare craniofacial …

Auriculo‐condylar syndrome. Confronting a diagnostic challenge

NM Kokitsu‐Nakata, RM Zechi‐Ceide… - American Journal of …, 2012 - Wiley Online Library
Auriculo‐condylar syndrome (ACS) is characterized by typical ears malformation (so‐called
“question mark” ears), prominent cheeks, microstomia, and abnormality of the …

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

SM Kanai, C Heffner, TC Cox… - Disease Models & …, 2022 - journals.biologists.com
ABSTRACT Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant
craniofacial malformation syndrome linked to multiple genetic variants in the coding …