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SHR Neuro Cancer Cardio Lipid Metab Microb
Vegas, N; Demir, Z; Gordon, CT; Breton, S; Tavares, VLR; Moisset, H; Zechi-Ceide, R; Kokitsu-Nakata, NM; Kido, Y; Marlin, S; Halem, SG; Meerschaut, I; Callewaert, B; Chung, B; Revencu, N; Lehalle, D; Petit, F; Propst, EJ; Papsin, BC; Phillips, JH; Jakobsen, L; Le Tanno, P; Thevenon, J; McGaughran, J; Gerkes, EH; Leoni, C; Kroisel, P; Tan, TY; Henderson, A; Terhal, P; Basel-Salmon, L; Alkindy, A; White, SM; Passos-Bueno, MR; Pingault, V; De Pontual, L; Amiel, J.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
HUM MUTAT. 2022;
Doi: 10.1002/humu.24349
Web of Science
PubMed
FullText
FullText_MUG
- Co-authors Med Uni Graz
- Kroisel Peter
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- Abstract:
- 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.
- Find related publications in this database (Keywords)
- auriculocondylar syndrome
- craniofacial anomalies
- EDN1
- GNAI3
- PLCB4
- question mark ear