Results 61 to 70 of about 1,422,626 (192)

Treacher Collins Syndrome: Challenges for Anesthesia Care [PDF]

, 2016
This poster discusses the disorder known as Treacher Collins syndrome with a focus on understanding the syndrome and unique challenges in patient care. Hallmark features of the disorder present unique challenges for healthcare professionals, especially ...
Smith, Clara
core  

3D‐Printed High‐Fidelity Pediatric Mannequin for Rigid and Flexible Bronchoscopy Training on Difficult Airways

Engineering Reports, Volume 8, Issue 5, May 2026.
The article describes the design and manufacturing process of a novel pediatric high‐fidelity pathological mannequin for clinical training on unanticipated difficult airway management using rigid and flexible bronchoscopy. The mannequin has been developed from the CT scans of a 19‐month‐old polysyndromic patient (Crouzon Syndrome), thanks to the ...
Marta Mencarelli, Paola Serio, Luca Puggelli, Roberto Baggi, Stefano Avenali, Yary Volpe   +5 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development. [PDF]

PLoS Genetics, 2014
During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are ...
Chengtian Zhao, Viktoria Andreeva, Yann Gibert, Melissa LaBonty, Victoria Lattanzi, Shubhangi Prabhudesai, Yi Zhou, Leonard Zon, Kathleen L McCann, Susan Baserga, Pamela C Yelick   +10 more
doaj   +1 more source

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, Mateus José Dutra, Gustavo Davi Rabelo, Ana Carolina Prado Ribeiro, Marcio Ajudarte Lopes, Márcio Diniz‐Freitas, Luiz Paulo Kowalski, Alan Roger Santos‐Silva, Caique Mariano Pedroso   +8 more
wiley   +1 more source

Treacher Collins Syndrome with Patent Ductus Arteriosus: A Case Report

, 2007
Objective: Treacher Collins syndrome or mandibulofacial dysostosis is a rare genetic syndrome characterized by a small mandible and ear anomalies. Some of the patients have congenital heart disease.
Moghadam, MY Aarabi, Zanjani, K Sayadpour   +1 more
core   +2 more sources

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Rwanda Medical Journal, 2022
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, L. Mutesa   +7 more
doaj  

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

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, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

A rare case of beaten copper skull pattern associated with Treacher Collins syndrome

Journal of Oral and Maxillofacial Radiology, 2016
Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia.
Sunita Gupta, Anju Garg, Khusboo Singh, Sinny Goel   +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