Results 71 to 80 of about 6,330 (183)

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

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

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

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

Medicine 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, Sedat Akbas, Erol Toy, Mehmet Ridvan Yalin, Ayse Yilkinc   +4 more
doaj   +1 more source

Obstructive sleep apnea in children [PDF]

, 2010
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by recurrent episodes of partial or complete upper airway obstruction during sleep.
Fagondes, Simone Chaves, Moreira, Gustavo Antonio   +1 more
core   +3 more sources

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

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
core  

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
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

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Fisioterapia 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, Juliane Leonardo Oliveira Silva, Pryscilla Gualberto Guimarães, Cibelle Kayenne Martins Roberto Formiga, Fabiana Pavan Viana   +4 more
doaj   +1 more source