Results 81 to 90 of about 6,877 (203)

Choanal atresia: A review of surgical outcomes in a tertiary medical center

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 2, Page 207-212, June 2025.
Abstract Introduction Choanal atresia (CA) is a congenital narrowing or obliteration of the posterior nasal aperture. The condition is rare with an incidence of approximately 1 in 5000 to 9000 live births. Objective The aim of this work was to assess the results of treating this condition at the Otolaryngology Department in Oslo University Hospital ...
Sinan Dheyauldeen, Ketil Heimdal, Terje Osnes, Harriet Akre, Lars Olsson   +4 more
wiley   +1 more source

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  

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

The genetics of cholesteatoma. A systematic review using narrative synthesis [PDF]

, 2018
Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale up to a million people are ...
Al Balushi, Aquino, Bacciu, Bergamaschi, Bhutta, Blaser, Bonding, Büchner, Caye-Thomasen, Colnaghi, Daugbjerg, Djurhuus, el-Sayed, Gadre, Graham, Hall, Herrmann, Homøe, Iino, James, Jin, Kazahaya, Kinzler, Klenke, Kornblut, Landegger, Lau, Lim, Lipkin, Little, Macias, MacKinnon, Mann, Maw, Naito, Ott, Plester, Podoshin, Prinsley, Ray, Reber, Rosenfeld, Saito, Schilder, Serra, Shaoul, Suzuki, Tange, Tos, Vaglio, Worley, Yoon   +51 more
core   +1 more source

Research Progress on Embryonic Development, Genetic Regulation and Clinical Management of Congenital Middle Ear Malformations

Flavour and Fragrance Journal, Volume 40, Issue 3, Page 393-401, May 2025.
This article systematically reviews the embryonic development process and gene regulatory mechanisms of the middle ear, with a particular focus on the role of the Tbx1 gene, which is closely associated with middle ear development, in middle ear malformations, especially those involving the ossicular chain.
Xiaochen Gao, Chengzhilin Li, Fanyu Yuan, Xue Cao, Chengcheng Liu, Wenwen Qi, Fengyang Xie, Ming Xia   +7 more
wiley   +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  

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

Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

The Laryngoscope, Volume 135, Issue S3, Page S1-S12, May 2025.
Mandibular anomalies can present with airway obstruction at birth and if patency is not quickly established, neonatal hypoxic complications or death occur. Advanced mobilization or airway intervention during sustained placental support can mitigate risk; however, the techniques can increase risks to the pregnant person.
Michael D. Puricelli, Samantha J. Barr, Johanna L. Ellefson, Maya N. Matabele, Elle C. Nuttall, Gisselle Garcia, Sabrina X. Huang, Manasa Venkatesh, Inna N. Lobeck   +8 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

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source