Results 61 to 70 of about 6,330 (183)

Treacher Collins Syndrome: Challenges for Anesthesia Care [PDF]

, 2016
This poster discusses the disorder known as Treacher Collins syndrome with a focus on understanding the syndrome and unique challenges in patient care. Hallmark features of the disorder present unique challenges for healthcare professionals, especially ...
Smith, Clara
core   +1 more source

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

Neural crest cell-derived VEGF promotes embryonic jaw extension [PDF]

, 2015
Jaw morphogenesis depends on the growth of Meckel’s cartilage during embryogenesis. However, the cell types and signals that promote chondrocyte proliferation for Meckel’s cartilage growth are poorly defined.
Christiana Ruhrberg, Francesca E. Mackenzie, Gerber, Peter Anderson, Quenten Schwarz, Samuela Kabbara, Sophie Wiszniak, Thomas   +7 more
core   +1 more source

2278

Journal of Clinical and Translational Science, 2017
OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing ...
Alistair N. Ward, Matt Velinder, Chase Miller, Tony Di Sera, Yi Qiao, Dave Viskochil, Gabor Marth   +6 more
doaj   +1 more source

First and second branchial arch syndromes: multimodality approach [PDF]

, 2018
First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches.
Gudinchet, François, Jaques, Bertrand, Laswed, Tarek, Maestre, Leonor, Meuli, Reto, Meuwly, Jean-Yves, Senggen, Elodie   +6 more
core  

Ocular abnormalities in genetically deaf people [PDF]

, 2000
Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients.
Brunoni, Decio, Chen, Jane, Longhitano, Silvia Bragagnolo, Sallum, Juliana Maria Ferraz   +3 more
core   +3 more sources

Prosthetic management of a patient with Treacher Collins syndrome

Indian Journal of Dental Research, 2006
Treacher Collins syndrome encompasses a group of closely related defects of the head and neck. It is a rare syndrome characterized by bilaterally symmetrical abnormalities derived from the first and second brachial arches and the nasal placode.
Madhan R, Nayar Sanjna
doaj  

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

Genetic disorders in the Indian community of South Africa [PDF]

, 2016
OBJECTIVES: To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographic factors, and discuss the implications for medical and genetic care.
Beighton, P, Winship, W S
core  

Fishing the molecular bases of Treacher Collins syndrome.

PLoS 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, Nadia L Scampoli, Nora B Calcaterra   +2 more
doaj   +1 more source