SAUVESTRE, Clément; BOILEAU, Marie-José; CAULE, Camille; GRIFFITHS, Didier; SCHRUB, Florian; CHASSAING, Nicolas; ROORYCK, Caroline

doi:10.1017/S104795112402660X

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SAUVESTRE, Clément
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

BOILEAU, Marie-José

CAULE, Camille

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Cardiology in the Young. 2024-10-11p. 1-4

Résumé en anglais

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.< Réduire

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Radiculomegaly

BCOR gene

Oculo-faciocardio- dental syndrome

Microphthalmia syndromic type 2

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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.

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