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Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | SAUVESTRE, Clément | |
| dc.contributor.author | BOILEAU, Marie-José | |
| dc.contributor.author | CAULE, Camille | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | GRIFFITHS, Didier | |
| hal.structure.identifier | Polyclinique Bordeaux Nord Aquitaine [PBNA] | |
| dc.contributor.author | SCHRUB, Florian | |
| hal.structure.identifier | Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale | |
| dc.contributor.author | CHASSAING, Nicolas | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ROORYCK, Caroline | |
| dc.date.accessioned | 2024-12-06T15:12:53Z | |
| dc.date.available | 2024-12-06T15:12:53Z | |
| dc.date.issued | 2024-10-11 | |
| dc.identifier.issn | 1467-1107 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/203742 | |
| dc.description.abstractEn | Radiculomegaly is a rare dental anomaly characterised by the enlargement of the root canals of teeth. It is usually associated with oculo-facio-cardio-dental (OFCD) syndrome due to truncating variants in BCL-6 transcriptional corepressor () (MIM*300485). We present the case of a 21-year-old female patient who was referred to genetics for a polymalformative syndrome including bilateral glaucoma and dental anomalies, especially radiculomegaly. Some others dysmorphic features were right superior lip notch, ogival palate, long philtrum, difficulty in pronation, café-au-lait spots, II-III toe bilateral syndactyly, and macrocephaly. Cone-beam CT confirmed radiculomegaly. The genetic analysis identified a heterozygous pathogenic variant NM_001123385.1:c.2093del (p.Pro698Glnfs*17) in the gene. After genetic diagnosis of OFCD syndrome, cardiac CT-scan revealed a large asymptomatic atrial septal defect that was subsequently surgically closed. Reviews of the literature have previously highlighted the prevalence of radiculomegaly in OFCD syndrome with a positive predictive value of 88.23% and a sensitivity of 75.94%. This case report highlights the importance of radiculomegaly as a clinical sign of OFCD syndrome, emphasising the rarity of non-syndromic radiculomegaly and the benefits of its diagnosis in clinical management, especially in cardiac screening. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Radiculomegaly | |
| dc.subject.en | BCOR gene | |
| dc.subject.en | Oculo-faciocardio- dental syndrome | |
| dc.subject.en | Microphthalmia syndromic type 2 | |
| dc.title.en | Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene. | |
| dc.title.alternative | Cardiol Young | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1017/S104795112402660X | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 39390895 | en_US |
| bordeaux.journal | Cardiology in the Young | en_US |
| bordeaux.page | 1-4 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04823871 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-12-06T15:12:55Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Cardiology%20in%20the%20Young&rft.date=2024-10-11&rft.spage=1-4&rft.epage=1-4&rft.eissn=1467-1107&rft.issn=1467-1107&rft.au=SAUVESTRE,%20Cl%C3%A9ment&BOILEAU,%20Marie-Jos%C3%A9&CAULE,%20Camille&GRIFFITHS,%20Didier&SCHRUB,%20Florian&rft.genre=article |
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