Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
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
October 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.
Corrigendum to "Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1" [J Oral Biosci 66(1) March 2024 Pages 225-231].
J Oral Biosci
June 2024
Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8549, Japan.
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.
Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1.
J Oral Biosci
March 2024
Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8549, Japan. Electronic address:
Objectives: Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked genetic disorder caused by mutations in the BCL6 co-repressor (BCOR) and is mainly characterized by radiculomegaly (elongated dental roots). All BCOR mutations reported to date have been associated with premature termination codons, indicating that nonsense-mediated mRNA decay (NMD) might play a vital role in the pathogenesis of OFCD syndrome. However, the molecular mechanisms underlying NMD remain unclear.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!