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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
- Source :
-
Human mutation [Hum Mutat] 2022 May; Vol. 43 (5), pp. 582-594. Date of Electronic Publication: 2022 Mar 07. - Publication Year :
- 2022
-
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.<br /> (© 2022 Wiley Periodicals LLC.)
- Subjects :
- Ear abnormalities
Humans
Pedigree
Phenotype
Ear Diseases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 43
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 35170830
- Full Text :
- https://doi.org/10.1002/humu.24349