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Page 1
Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.
Li Q, Jiang Z, Zhang L, Cai S, Cai Z. Li Q, et al. J Formos Med Assoc. 2023 Sep;122(9):822-842. doi: 10.1016/j.jfma.2023.04.024. Epub 2023 May 17. J Formos Med Assoc. 2023. PMID: 37208246 Free article. Review.
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), mandibul …
Auriculocondylar syndrome (ARCND) is a genetic and rare craniofacial condition caused by abnormal development of the first and …
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
Bukowska-Olech E, Sowińska-Seidler A, Łojek F, Popiel D, Walczak-Sztulpa J, Jamsheer A. Bukowska-Olech E, et al. J Appl Genet. 2021 Feb;62(1):107-113. doi: 10.1007/s13353-020-00591-3. Epub 2020 Oct 31. J Appl Genet. 2021. PMID: 33131036 Free PMC article. Review.
Auriculocondylar syndrome (ACS) is an ultra-rare disorder that arises from developmental defects of the first and second pharyngeal arches. ...
Auriculocondylar syndrome (ACS) is an ultra-rare disorder that arises from developmental defects of the first and second phary …
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z. Zhang Y, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. Mol Genet Genomic Med. 2024. PMID: 38618928 Free PMC article. Review.
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and …
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the fir …
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon 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. Vegas N, et al. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35170830
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). ...
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect …
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. Romanelli Tavares VL, et al. J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8. J Med Genet. 2022. PMID: 34750192 Free PMC article.
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. ...
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and sec …
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Peart LS, Gonzalez J, Bivona S, Latchman K, Torres L; Undiagnosed Diagnosis Network; Tekin M. Peart LS, et al. Am J Med Genet A. 2022 Apr;188(4):1307-1310. doi: 10.1002/ajmg.a.62634. Epub 2022 Jan 7. Am J Med Genet A. 2022. PMID: 34995019
Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. ...
Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other m …
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specifi …
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar …
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT. Clouthier DE, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):306-17. doi: 10.1002/ajmg.c.31376. Epub 2013 Oct 4. Am J Med Genet C Semin Med Genet. 2013. PMID: 24123988 Free PMC article. Review.
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 syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and …
Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expecta …
Auriculo-condylar syndrome.
Papagrigorakis MJ, Karamolegou M, Vilos G, Apostolidis C, Karamesinis K, Synodinos PN. Papagrigorakis MJ, et al. Angle Orthod. 2012 May;82(3):556-64. doi: 10.2319/052911-356.1. Epub 2011 Nov 3. Angle Orthod. 2012. PMID: 22050072 Free PMC article.
The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. ...The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome …
The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic de …
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315542
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. ...
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hyp …
44 results