Results 61 to 70 of about 790 (163)

Treacher Collins Syndrome: A Case Report and Review of Literature

Journal of Pediatrics Review, 2019
Introduction: Treacher Collins Syndrome (TCS) is an inherited and rare, autosomal dominant condition of craniofacial malformation with varying degrees of penetrance and expression that has been described extensively in the scientific literature with more
Effat Khodadadi, Zahra Dehghan
doaj  

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. [PDF]

J Med Life, 2021
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM.   +5 more
europepmc   +1 more source

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly. [PDF]

J Clin Lab Anal, 2022
Yang M, Liu Y, Lin Z, Sun H, Hu T.
europepmc   +1 more source

Wonder (2017): Analysis of the psychosocial dimensions of Treacher Collins´ syndrome

Revista de Medicina y Cine / Journal of Medicine and Movies, 2019
Anxiety and fear of the unknown are common feelings among families when children first face their schooling. But if the beginning of schooling occurs too late, the fear of social failure increases.
Sandra RODRÍGUEZ CAMBRANIS, Abigail Bernice SÁNCHEZ BENÍTEZ, Esteban AGUILAR VARGAS, Carlos Mario GAMBOA RODRÍGUEZ, Nina Isabel MÉNDEZ DOMÍNGUEZ   +4 more
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[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2022
Li X, Hong M, Dai P, Yuan Y.
europepmc   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Fisioterapia em Movimento
Introduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race.
Bárbara Gabriela da S. Rodrigues, Juliane Leonardo Oliveira Silva, Pryscilla Gualberto Guimarães, Cibelle Kayenne Martins Roberto Formiga, Fabiana Pavan Viana   +4 more
doaj   +1 more source

Towards consensus on the treatment of congenital craniofacial conditions: the discussion section of a doctoral thesis

Journal of Plastic Surgery and Hand Surgery
Background: Congenital craniofacial conditions are a diverse group of rare and complex disorders, leading to significant functional and psychosocial challenges.
Victor van Roey, Irene M.J. Mathijssen, Aebele B. Mink van der Molen, Sarah L. Versnel   +3 more
doaj   +1 more source

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. [PDF]

Genes (Basel), 2020
Sieck RL, Fuller AM, Bedwell PS, Ward JA, Sanders SK, Xiang SH, Peng S, Petersen JL, Steffen DJ.   +8 more
europepmc   +1 more source

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +1 more source

Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes

The Journal of Clinical Investigation
Birth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions.
Sharien Fitriasari, Roberta Fiorino, Thoa H.K. Truong, Mary C. McKinney, Jill Dixon, Michael J. Dixon, Paul A. Trainor   +6 more
doaj   +1 more source