Results 81 to 90 of about 1,422,626 (192)

Fishing the molecular bases of Treacher Collins syndrome.

open access: yesPLoS ONE, 2012
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases.
Andrea M J Weiner   +2 more
doaj   +1 more source

Treacher Collins Syndrome and Anesthesia Management (Case Report)

open access: yes, 2000
Treacher Collins sendromu kulaklarda, gözlerde, maksilla ve mandibulada deformiteler ile birliktedir. Treacher Collins sendromu olan olgularda havayolu açıklığının sağlanmasında güçlüklerle karşılaşılmaktadır, sunumuzda bu ve benzeri sendromların ...
Reisli, Ruhiye   +3 more
core  

Nasotracheal intubation with c-mac video-laryngoscope in a patient with Treacher Collins Syndrome

open access: yesMedicine Science, 2017
Treacher Collins Syndrome (TCS) is a dominantly inherited autosomal disease, which is limited to head and neck. In management of difficult airways seen in patients with TCS, the direct laryngoscope, video-laryngoscope (VL), and fiber-optic laryngoscope ...
Ahmet Selim Ozkan   +4 more
doaj   +1 more source

Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report

open access: yesMAMC Journal of Medical Sciences, 2018
Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a result of
Shalu Rai   +4 more
doaj   +1 more source

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

open access: yesJournal of the Formosan Medical Association, 2006
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and ...
Pen-Hua Su   +3 more
doaj   +1 more source

Treacher-Collins syndrome [PDF]

open access: yes
INTRODUCTION- Treacher Collins syndrome (TCS) is a rare syndrome inherited as autosomal dominant. The affected children may vary in severity ranging from minimal features as slanting of palpebral fissures to major features of craniofacial ...
Sarella, LK, Kumar , PD, Kumari , CK
core   +1 more source

Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome [PDF]

open access: yes, 2014
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The syndrome is characterized by a similar phenotype: micrognathia, microtia, midface hypoplasia, cleft lip and palate. The estimated incidence rate is 1/50000
Sąsiadek, Maria M.   +2 more
core   +1 more source

Crafting a Solution: An Impromptu Approach to Intubation in a Patient With Treacher-Collins Syndrome, Utilizing Video-Laryngoscopy and a Custom J-Shape Stylet

open access: yesActa Medica Iranica
Treacher-Collins syndrome (TCS) is a rare congenital disease known to be associated with a difficult airway and is challenging for anesthesiologists practicing pediatric anesthesia.
Babak Eslami   +5 more
doaj   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

open access: yesFisioterapia 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   +4 more
doaj   +1 more source

Berry syndrome: A case report and review of literature

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2017
Berry syndrome or Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with variable expressivity. The most common manifestations of TCS are the antimongoloid slanting of the palpebral fissures, colobomas of the ...
Mayuri P Suryavanshi   +4 more
doaj   +1 more source

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