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 …

[HTML][HTML] Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies

Q Li, Z Jiang, L Zhang, S Cai, Z Cai - Journal of the Formosan Medical …, 2023 - Elsevier
Auriculocondylar syndrome (ARCND) is a genetic and rare craniofacial condition caused by
abnormal development of the first and second pharyngeal arches during the embryonic …

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

MJ Rieder, GE Green, SS Park, BD Stamper… - The American Journal of …, 2012 - cell.com
Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation
syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, cleft …

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 …

Single-stage reconstruction of severe question mark ear with the absence of large portions of the lobule using affected cartilage graft and 3 flaps

T Wang, J Zhi, X Yu, H Jiang - Journal of Plastic, Reconstructive & Aesthetic …, 2024 - Elsevier
Background Question mark ear (QME) is a congenital abnormality characterized by a
prominent curve within the helix that resembles a question mark. Several surgical …

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') …

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

Y Kido, CT Gordon, S Sakazume… - American Journal of …, 2013 - Wiley Online Library
Auriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an
autosomal dominant fashion. Patients with ACS display the following core symptoms with …

Auriculo‐condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds

AL Storm, JM Johnson, E Lammer… - American Journal of …, 2005 - Wiley Online Library
We report on 20 individuals in 4 kindreds with auriculo‐condylar syndrome (ACS), an
autosomal dominant disorder characterized by congenital auricular clefts, mandibular …

Auriculo‐condylar syndrome: Additional patients

ML Guion‐Almeida, RM Zechi‐Ceide… - American journal of …, 2002 - Wiley Online Library
This report describes several relatives in three generations of one family and another,
unrelated boy with auriculo‐condylar syndrome, a rare autosomal dominant disorder …

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 …