Auriculo-condylar syndrome is a rare genetic syndrome. The characteristic features of the syndrome are auricular deformity and mandibular hypoplasia. The special auricular deformity is called a question mark ear because of the appearance of the auricle. A 21-year-old male patient with auriculo-condylar syndrome is presented. The auricular deformities are treated by local flaps and anterior scoring. The mandibular contour deformity is corrected by porous polyethylene implant. Both reconstructions were successful, and patient satisfaction was good.
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Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report.
BMC Oral Health
July 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Clinical Research Center for Oral Diseases, Department of Oral and Maxillofacial Surgery, School of Stomatology, The Fourth Military Medical University, 145 West Changle Road, Xi'an, 710032, PR China.
Background: Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients' lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities.
View Article and Find Full Text PDFAuriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Mol Genet Genomic Med
April 2024
Radiology Department, Center of Imaging Diagnosis, Anhui Provincial Children's Hospital/Children's Hospital of Fudan University (Affiliated Anhui Branch), Hefei, Anhui, China.
Article Synopsis
- Auriculocondylar syndrome (ARCND) is a rare genetic condition affecting the first and second pharyngeal arches, characterized by ear malformations, facial bone issues, and varying subtypes (ARCND1-4).
- A case study highlighted a 5-day-old boy with ARCND2 and a new mutation in the PLCB4 gene, which may disrupt protein function and was linked to physical symptoms like micrognathia and distinctive ear shapes.
- While most patients with ARCND2 generally show normal motor and intellectual development, variability in symptoms exists among families, indicating the need for long-term monitoring.
Question Mark Ear: An Unusual Anomaly and a Novel Surgical Technique for Reconstruction.
J Craniofac Surg
February 2024
Department of Plastic, Reconstructive and Aesthetic Surgery, Cerrahpasa Medical Faculty, Istanbul University - Cerrahpasa, Istanbul, Turkey.
The question mark ear is a rare abnormality characterized by a cleft between the helix and the earlobe, resulting in a protrusion of the upper part of the ear. The severity of this ear malformation can range from a minor notch in the helix to a complete separation of the helix and the earlobe. In this study, we present a case of a patient with a moderately severe right-sided unilateral question mark deformity.
View Article and Find Full Text PDFA homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.
Am J Med Genet A
November 2023
Faculty of Medicine, Pharmacy and Dentistry, Laboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
Article Synopsis
- Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect featuring abnormalities in the jaw and ears, with three identified subtypes, one of which (ARCND2) is linked to mutations in the PLCB4 gene.
- ARCND2 is typically inherited in an autosomal dominant fashion, but the study identifies a homozygous mutation in PLCB4 in a 3-year-old patient, leading to severe symptoms beyond typical craniofacial features, including intestinal issues and hearing loss.
- This research highlights the need for clinicians to recognize the full range of symptoms associated with ARCND, particularly due to the potential for rare and severe manifestations connected to PLCB4 gene variants.
Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.
J Formos Med Assoc
September 2023
Department of Plastic Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China; Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, China. Electronic address:
Auriculocondylar syndrome (ARCND) is a genetic and rare craniofacial condition caused by abnormal development of the first and second pharyngeal arches during the embryonic stage and is characterized by peculiar auricular malformations (question mark ears), mandibular condyle hypoplasia, micrognathia and other less-frequent features. GNAI3, PLCB4 and EDN1 have been identified as pathogenic genes in this syndrome so far, all of which are implicated in the EDN1-EDNRA signal pathway. Therefore, ARCND is genetically classified as ARCND1, ARCND2 and ARCND3 based on the mutations in GNAI3, PLCB4 and EDN1, respectively.
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