Results 51 to 60 of about 2,424 (159)

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  

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

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 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

Technology Utilisation and Engagement in Physical Activity of Adolescents With Intellectual Disabilities: A Scoping Review

Journal of Applied Research in Intellectual Disabilities, Volume 39, Issue 1, January 2026.
ABSTRACT Background Low levels of physical activity (PA) among adolescents with intellectual disabilities are a serious health concern that increases the risk for chronic health conditions. This scoping review examines technology utilisation that supports PA engagement among adolescents with intellectual disabilities.
Patricia West, Karla Palmer, Brian Abery, Jessica Sender, Alli Walsh, Gwen Wyatt   +5 more
wiley   +1 more source

Airway Management With a GlideScope® Spectrum LoPro Blade in a Child With Giant Facial Rhabdomyosarcoma: A Case Report

Case Reports in Anesthesiology, Volume 2026, Issue 1, 2026.
Difficult airways can cause severe hypoxia when inducing general anesthesia unless they are well managed, especially for pediatric patients. Successful management of pediatric difficult airways requires meticulous assessments and preparations. The GlideScope® Spectrum LoPro is a thin, hyperangulated blade.
Morio Kosokabe, Satoshi Sunaga, Ayano Sekigawa, Yukitoshi Niiyama, Vinicius Quintao   +4 more
wiley   +1 more source

Treacher collins syndrome - Report of a classical case

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally ...
Shweta Gangotri Sumbh, Jaishree Pagare, Bharat Sumbh   +2 more
doaj   +1 more source

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource‐Limited Setting

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Congenital syngnathia, the rare fusion of the maxilla and mandible, poses significant feeding and respiratory challenges. Its management is complicated by rarity and potential syndromic associations. We present a 1‐week‐old female neonate who presented with left jaw deviation, respiratory distress (SpO2 69%, tachypnea), and fever.
Asteway M. Haile, Biruk T. Mengistie, Tinsae Y. Tamiru, Chernet T. Mengistie, Dawit G. Abebe, Bezawit M. Haile   +5 more
wiley   +1 more source

2278

Journal of Clinical and Translational Science, 2017
OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing ...
Alistair N. Ward, Matt Velinder, Chase Miller, Tony Di Sera, Yi Qiao, Dave Viskochil, Gabor Marth   +6 more
doaj   +1 more source