Results 91 to 100 of about 6,402 (203)

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

MAMC 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, Kuber Tyagi, Deepankar Misra, Mansi Khatri, Prerna Jain   +4 more
doaj   +1 more source

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
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Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Journal 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, Jia-Yu Chen, Suh-Jen Chen, Ju-Shan Yu   +3 more
doaj   +1 more source

Abnormal mandibular growth and the condylar cartilage [PDF]

, 2017
Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular ...
Luder, Hans. U., Müller, Lukas, Peltomäki, Timo, Pirttiniemi, Pertti   +3 more
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Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex [PDF]

, 2012
BACKGROUND: Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes.
Batsukh, Tserendulam, Oellerich, Thomas, Pauli, Silke Jeannette, Rabe, Tamara I., Schaefer, Inga-Marie, Schulz, Yvonne, Urlaub, Henning, Wolf, Stephan   +7 more
core   +3 more sources

Unilateral absence of submandibular gland secondary to stones. Aplasia versus early atrophy [PDF]

, 2010
Major salivary gland absence is a rare disorder. The cause of congenital absence of the salivary glands has not been determined, but it may be associated with ectodermal defects of the first and second branchial arches. Isolated absence of a unilateral
Gallego, Lorena, García Consuegra, Luis, Junquera Gutiérrez, Luis Manuel, Rosado Rodríguez, Pablo   +3 more
core   +1 more source

Monitoring Children with Risk Factors. 2008 [PDF]

, 2008
The Iowa EHDI High-Risk Monitoring Protocol is based on the Joint Committee on Infant Hearing 2007 position statement. Emphasis is placed on follow-up as deemed appropriate by the primary health care provider and audiologist.

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Flexibility within the middle ears of vertebrates [PDF]

, 2012
Introduction and aims: Tympanic middle ears have evolved multiple times independently among vertebrates, and share common features. We review flexibility within tympanic middle ears and consider its physiological and clinical implications.
Baird, Bell, Burda, Dahmann, Feenstra, Fleischer, Goode, Goode, Ingelstedt, Jørgensen, Kirikae, Kobrak, Larsen, Lenhardt, M J Mason, M R B Farr, Manley, Marquet, Mason, Mason, Mason, Mason, Mills, Narins, Nishihara, Pau, Rosowski, Schuknecht, Segall, Smith, Tideholm, Werner, Wever, Wever, Wever, Yamada, Özcan   +36 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

Acta 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, Hamidreza Amiri, Maryam Parnian, Alireza Montaseri, Ali Mahdavi, Reza Effatdoost   +5 more
doaj   +1 more source

Atresia coanal: análise de 17 casos. [PDF]

, 2000
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Monteiro, Fernanda Maia
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