Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1017/S104795112402660X | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hepatoblastoma in a 13-Month-old Male With Oculofaciocardiodental Syndrome.
J Pediatr Hematol Oncol
January 2025
Division of Haematology/Oncology, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, London, ON, Canada.
Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant condition that is typically lethal in males.
Observations: A 13-month-old male patient with OFCD syndrome presented with hepatoblastoma. He received chemotherapy per standard of care and had a surgical resection with few complications.
Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.
BMC Oral Health
October 2024
Department of Stomatology, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic.
Background: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.
Case Presentation: Dental examinations were carried out.
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.
Cardiol Young
December 2024
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Article Synopsis
- * A case was presented involving a 21-year-old woman with several health issues, including bilateral glaucoma and radiculomegaly, confirmed through cone-beam CT scans.
- * Genetic testing identified a specific mutation related to OFCD syndrome, and further scans revealed an atrial septal defect that was surgically repaired, highlighting the critical role of diagnosing radiculomegaly for effective clinical management and cardiac evaluations.
A novel frameshift variant in causes congenital nuclear cataract.
Ophthalmic Genet
December 2024
UCL Institute of Ophthalmology, University College London, London, UK.
Background: BCL6 co-repressor () gene variants are involved in oculofaciocardiodental (OFCD) syndrome, acute myeloid leukaemia, renal tumours, and photoreceptor degenerative diseases. Here, we describe a British family with a pathogenic heterozygous variant in the gene causing congenital nuclear cataract.
Methods: Whole-exome sequencing was conducted on an individual affected by X-linked dominant congenital cataract in a three-generation family to establish the underlying genetic basis.
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with -associated oculo-facio-cardio-dental (OFCD) syndrome.
Am J Ophthalmol Case Rep
June 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, FL, USA.
Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
Observations: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia.