Results 91 to 100 of about 1,372 (198)

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.   +7 more
europepmc   +1 more source

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  

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

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

A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]

, 2016
Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K., Ding, Liang-Hao, Hoppe, Carolyn, Liu, Li, Pace, Betty S, Pertsemlidis, Alexander, Sebastiani, Paola, Steinberg, Martin H, Story, Michael D   +8 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

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

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