Results 81 to 90 of about 2,017 (144)

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

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  

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

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

Oculo-auriculo-vertebral Spectrum (Goldenhar′s Syndrome) - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2005
Goldenhar′s syndrome also known as Hemifacial microsomia and Oculo auriculo vertebral dysplasia is a type of mandibulofacial dysostosis, with ocular problems, abnormal pinna, a small mandible and epibulbar dermoids.
N Mohan
doaj  

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  

[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

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

, 2008
We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present.
Perez, Ana Beatriz Alvarez [UNIFESP], Alves, Maria Teresa de Seixas [UNIFESP], Brunoni, Decio [UNIFESP], Macena Sobreira, Nara Lygia de [UNIFESP], Cernach, Mirlene Cecilia Soares Pinho [UNIFESP]   +4 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