Results 41 to 50 of about 2,424 (159)
Head and Neck Clinical Signs Associated With Diseases: A Scoping Review
Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter +8 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Treacher-Collins Syndrome-A Challenge For Aaesthesiologists
Indian Journal of Anaesthesia, 2009 Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia ...
Leena Goel +2 more
doaj
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature
Contemporary Clinical Dentistry, 2014 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable.
Raj Renju +3 more
doaj +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, Volume 16, Issue 3, Page 561-569, March 2026.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score < 0.33), emphasizing that craniofacial anomalies do not uniformly predict respiratory compromise.
Federica Guglielmi +3 more
wiley +1 more source
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello +29 more
wiley +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
doaj
Cumhuriyet Dental Journal, 2019 This article reports a case of Treacher Collins syndrome (TCS) in a five-year-old male patient treated in Kırıkkale University, Department of Pediatric Dentistry.
Aslı Soğukpınar, Merve Erkmen Almaz
doaj +1 more source
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source