Results 41 to 50 of about 1,372 (198)

Long term treatment outcomes from a patient’s perspective with Treacher Collins Syndrome [PDF]

, 2021
The management of patients with Treacher Collins Syndrome (TCS) is complex and involves many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is associated with a heavy burden of
Ellis, Pamela, Fowler, Peter, Smith, Francis   +2 more
core   +2 more sources

Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report [PDF]

Romanian Journal of Neurology
Background. Treacher-Collins Syndrome (TCS) (or mandibulofacial dysostosis) is a rare autosomal dominant genetic disorder involving 1st and 2nd branchial arches present with craniofacial deformities with variable expressivity.
Praveen Sharma, Ajina Sam, Iffath Misbah, Prajwal M.N.   +3 more
doaj   +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 ...
Aoto, Aylsworth, Bernier, Beygo, Bhat, Bowman, Chakraborty, Chemke, Ciccia, Conley, Czeschik, Dai, Dai, Dauwerse, Deml, Devotta, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Edwards, Edwards, Fang, Fang, Fazen, Frisdal, Garden, Gladwin, Gonzales, Guion-Almeida, Hail, Hall, Haupt, Hayano, Isaac, Jones, Jones, Kennedy, Komarov, Kuo, Larsen, Lau, Le Douarin, Levine, Lin, Lohrum, Luquetti, Marechal, Marres, Marsh, Masotti, Miller, Ng, Noack Watt, Noden, Nur, Petit, Phelps, Poswillo, Rainger, Richter, Robert, Rovin, Sagar, Sakai, Sakai, Saudi Mendeliome, So RB, Splendore, Splendore, Splendore, Teber, The Treacher Collins Syndrome Collaborative Group, Toledo, Trainor, Trainor, Trainor, Trainor, Trainor, Trainor, Valdez, Vincent, Watanabe, Weaver, Werner, White, Winokur, Wise, Xue, Yao   +92 more
core   +1 more source

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

, 2017
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...
A Dauber, A Ramu, Alex Henderson, Angus Clarke, C Wells, CA Martin, CF Wright, D D D Study, D Lehalle, D Trujillano, David R FitzPatrick, Fiona Stewart, Franziska Roessler, HV Firth, J Thevenon, Jane Hurst, JBGM Verheij, Jonathan Zonana, Julie Vogt, Julien Thevenon, Kaja K Selmer, Karen J Low, Katrina Tatton-Brown, Kory Keller, M Ansari, M Kircher, M Tooley, Magnus D Vigeland, Marjolaine Willems, Mark Greenslade, MD Vigeland, Michael C Schneider, ML Hastings, Morad Ansari, Paul Kuentz, Rami Abou Jamra, S El Chehadeh, Salima El Chehadeh, Sarah F Smithson, SB Patel, Trine Prescott   +40 more
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Clinical spectrum of Treacher Collins syndrome

Journal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra, Mahdi Hasan, Rahul Pandey, Sumit Kumar   +3 more
doaj   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Dental anomalies in craniofacial microsomia: A systematic review [PDF]

, 2019
Objective: To provide an overview on the prevalence and types of dental anomalies in patients with craniofacial microsomia (CFM). Eligibility criteria: Inclusion criteria were CFM and dental anomalies.
Caron, C.J.J.M. (Linda), Dunaway, D.J. (David), Elsten, E.E.C.M. (Eline E. C. M.), Forrest, C. (Chris), Koudstaal, M.J. (Maarten), Padwa, B.L. (Bonnie L.)   +5 more
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An Acrofacial Dysostosis Case of Rodriguez Type [PDF]

, 2010
Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting ...
Asututi, Ida ayu, Fujiwara, Kumiko, Inoue, Sayaka, Natsume, Nagato, Noguchi, Makoto, Ruslin, Muhammad, Zhou, Zhibo   +6 more
core   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

Treacher Collins syndrome and implications in the oral cavity [PDF]

, 2020
Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Cardoso, Inês Lopes, Duque, C.
core   +1 more source