Results 91 to 100 of about 1,356 (192)

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
doaj  

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. [PDF]

Am J Med Genet A, 2021
Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN.   +8 more
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

Presentación de un caso con Síndrome Treacher Collins. [PDF]

, 2017
El Síndrome de Treacher Collins (STC) también denominado síndrome de Franceschetti-Zwahlen-Klein, es un desorden autosómico dominante del desarrollo craneofacial el cual presenta una considerable variabilidad de las manifestaciones clínicas.
Noel Pérez Valdés, Ramón Acosta Díaz, Reinaldo Menéndez García, Yamelín Pérez González   +3 more
core   +1 more source

[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

Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome [PDF]

, 2014
Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many ...
Amr, N, Gad, S, Salah, H, Shawky, RM
core   +1 more source

Penile agenesis associated with Treacher Collins syndrome [PDF]

, 2015
No ...
Rennert, Wolfgang P
core   +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