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http://dx.doi.org/10.1002/pd.6829 | DOI Listing |
Ann Med Surg (Lond)
June 2025
Faculty of Medicine, Albaath University, Homs, Syria.
Introduction: Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organs and presents with a variety of characteristics. It was found that a dysfunction in the cilia causes it, in addition to mutations in the genes involved in the composition of these cilia. We present a unique case of BBS in a 13-year-old male from Syria, characterized by a significant family history of scleroderma and a distinct clinical presentation.
View Article and Find Full Text PDFMol Syndromol
May 2025
Department of Paediatric Cardiology, Etlik City Hospital, Ankara, Turkey.
Introduction: Ellis-Van Creveld syndrome is a rare genetic disorder characterised by skeletal abnormalities, cardiac anomalies, and findings of hidrotic ectodermal dysplasia. Cardiac anomalies are common in this syndrome and usually include an atrial septal defect when present. The disorder is caused by homozygous or compound heterozygous pathogenic variants in the and genes.
View Article and Find Full Text PDFPrenat Diagn
July 2025
NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Genes (Basel)
April 2025
Medical Genetics Unit, MeLabeT Department, AUSL Romagna, 47521 Cesena, Italy.
Joubert syndrome (JS) is a multi-systemic ciliopathy, characterized by intellectual disability and congenital anomalies involving the brain, kidney, heart, and eye. Even if clinical presentation is variable, most authors consider a brain abnormality known as the molar tooth sign (MTS) as mandatory for diagnosis. About 40 genes were identified to be associated with JS, usually with an autosomal recessive pattern.
View Article and Find Full Text PDFHum Mol Genet
June 2025
Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
A 29-year-old male presented with rod-cone degeneration leading to legal blindness, post-axial polydactyly, obesity, cognitive impairment, and fatty liver, features suggestive of a clinical diagnosis of Bardet-Biedl Syndrome (BBS). Following negative clinical genetic testing, genome analysis identified biallelic variants in IFT57: p.(Val397Glu) and p.
View Article and Find Full Text PDF