Results 81 to 90 of about 6,402 (203)

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

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  

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  

Physical Impairment and Care Estimation in Medieval Estremoz (Portugal): A Bioarchaeological Perspective

International Journal of Osteoarchaeology, Volume 35, Issue 6, Page 490-501, November/December 2025.
ABSTRACT This study aims to compare diet and skeletal health indicators between individuals with varying degrees of physical impairment and the general adult population from medieval Estremoz, Portugal, to assess their health status and their survival outcomes.
Ana Curto, Célia Lopes, Anne‐France Maurer, Teresa Fernandes   +3 more
wiley   +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

Pediatric Outcomes for Severe and Very Severe Obstructive Sleep Apnea After Total vs. Intracapsular Tonsillectomy

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
Use of intracapsular tonsillectomy is poorly studied in children with severe and very severe OSAS (OAHI > 10). Our study is the first to specifically look at this population of patients, finding no significant difference in outcomes between total and intracapsular tonsillectomy.
Jordyn A. Hurly, Anna Christina Clements, Marisa A. Ryan, Megan Ballard, Carolyn Jenks, David E. Tunkel, Jonathan M. Walsh   +6 more
wiley   +1 more source

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

Persisting Motor Function Problems in Children With Oesophageal Atresia Associated With Surgical Approach and Sports

Acta Paediatrica, Volume 114, Issue 8, Page 2012-2022, August 2025.
ABSTRACT Aim Children born with oesophageal atresia are at risk for impaired motor function, yet longitudinal data are lacking. This study aimed to assess overall motor functioning, motor domains and potential predictors at school age over time. Methods A prospective observational cohort study conducted within a tertiary university hospital's follow‐up
Anne‐Fleur R. L. van Hal, Sophie de Munck, Tabitha P. L. Zanen – van den Adel, Joost van Rosmalen, Saskia J. Gischler, Hanneke IJsselstijn, John Vlot, Leontien C. C. Toussaint‐Duyster   +7 more
wiley   +1 more source

Treacher Collin Syndrome

Indian Journal of Plastic Surgery, 1984
SummaryA case of treacher-collin syndrome (Mandibulo facial dysostosis) is reported.
Rajendra N. Sharma, Tara Chandra
openaire   +2 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