Results 31 to 40 of about 1,362 (197)

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]

, 1997
Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty, Christian Lanctôt, Debra Gilbert, Jacques Drouin, Jacques J. Tremblay, Michael J. Crawford, Montréal Québec Hw, Nancy Jenkins, Neal Copel   +8 more
core   +4 more sources

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

Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction

Journal of Advanced Pharmaceutical Technology & Research, 2016
Drug reactions are a group of reactionary lesions generally show their manifestations in the oral cavity. The drug reactions may vary from local rashes to well-developed swellings in the oral cavity especially involving the gingiva.
Syed Ahamed Raheel, Omar Bashar Kujan, Bassel Tarakji, Dilshad Umar, Salah Ibrahim   +4 more
doaj   +1 more source

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

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

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

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

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
core   +4 more sources