Results 71 to 80 of about 2,017 (144)

Mandibulofacial dysostosis. Case report.

, 1995
A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome.
Beena, V., Anil, S., Vijayakumar, T., Remani, P., Ankathil, R.   +4 more
core  

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

, 2020
Pathogenic variants in the core spliceosome U5 snRNP gene EFTUD2/SNU114 cause the craniofacial disorder Mandibulofacial Dysostosis Guion-Almeida type (MFDGA).
Thomas, Huw, Pingault, Veronique, Attie-Bitach, Tania, Wood, Katherine, Buczek, Weronika, Newman, William; id_orcid, Gordon, Christopher, Hentges, Kathryn; id_orcid, Amiel, Jeanne, O'Keefe, Raymond; id_orcid, Varghese, Vinod   +10 more
core   +1 more source

Treacher Collins Syndrome

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
doaj  

Inherited diseases of Hereford and Angus cattle in Uruguay: a pathological review [PDF]

Pesquisa Veterinária Brasileira
: Uruguay sustains an extensive, pasture-based beef industry with more than 11 million cattle, dominated by Hereford and Aberdeen Angus breeds. Despite their economic importance, inherited disorders are often underreported because most associated losses ...
Fernando Dutra-Quintela, Carolina Briano-Rodríguez, Agustín Romero-Benavente   +2 more
doaj   +2 more sources

Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives

American Journal of Medical Genetics Part A, Volume 194, Issue 3, March 2024.
Abstract Neurodevelopmental disorders exhibit recurrent facial features that can suggest the genetic diagnosis at a glance, but recognizing subtle dysmorphisms is a specialized skill that requires very long training. Face2Gene (FDNA Inc) is an innovative computer‐aided phenotyping tool that analyses patient's portraits and suggests 30 candidate ...
Alessia Carrer, Maria Giovanna Romaniello, Maria Letizia Calderara, Milena Mariani, Andrea Biondi, Angelo Selicorni   +5 more
wiley   +1 more source

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Karla Terrazas, Jill Dixon, Paul A. Trainor, Dixon, Jill; id_orcid, Trainor, Paul A., Terrazas, Karla, Michael J. Dixon, Dixon, Michael   +7 more
core   +1 more source

Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.

, 1979
Macrostomus in the rabbit was diagnosed externally by the presence of papillae at the corners of the mouth. Internally the effect is on the zygomatic complex and is extremely variable.
Fox, R R, Crary, D D
core   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

As alterações fonoaudiológicas na síndrome de Goldenhar: relato de caso Speech, language and hearing deficits in the Goldenhar syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2008
O objetivo do trabalho foi relatar um caso clínico sobre a síndrome de Goldenhar e realizar um levantamento das alterações fonoaudiológicas encontradas no mesmo.
Rafaela Carolina Lopez Silva, Fabiana Faúla da Silva Alves, Sírley Soares Gonzaga Netto, Carla Menezes da Silva   +3 more
doaj   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source