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

Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Hon Yin Brian Chung, Nicole Revencu, Daphné Lehalle, florence petit, Evan J. Propst, Blake C. Papsin, John H. PhillipsLinda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y. Tan, Alex Henderson, Paulien Terhal, Lina Basel‐Salmon, Adila Alkindy, Susan M. White, Maria R. Passos‐Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel

Onderzoeksoutput: Articlepeer review


Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Originele taal-2English
Pagina's (van-tot)582-594
Aantal pagina's13
TijdschriftHuman Mutation
Nummer van het tijdschrift5
StatusPublished - mei 2022

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