Results 71 to 80 of about 6,402 (203)

A rare case of beaten copper skull pattern associated with Treacher Collins syndrome

Journal of Oral and Maxillofacial Radiology, 2016
Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia.
Sunita Gupta, Anju Garg, Khusboo Singh, Sinny Goel   +3 more
doaj   +1 more source

The role of negative maternal affective states and infant temperament in early interactions between infants with cleft lip and their mothers [PDF]

, 2012
OBJECTIVES: The study examined the early interaction between mothers and their infants with cleft lip, assessing the role of maternal affective state and expressiveness and differences in infant temperament.
Borgatti, R., Brusati, R., Fedeli, R., Montirosso, R., Morandi, F., Murray, Lynne, Perego, G. G.   +6 more
core   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

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

Technology Utilisation and Engagement in Physical Activity of Adolescents With Intellectual Disabilities: A Scoping Review

Journal of Applied Research in Intellectual Disabilities, Volume 39, Issue 1, January 2026.
ABSTRACT Background Low levels of physical activity (PA) among adolescents with intellectual disabilities are a serious health concern that increases the risk for chronic health conditions. This scoping review examines technology utilisation that supports PA engagement among adolescents with intellectual disabilities.
Patricia West, Karla Palmer, Brian Abery, Jessica Sender, Alli Walsh, Gwen Wyatt   +5 more
wiley   +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

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  

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

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource‐Limited Setting

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Congenital syngnathia, the rare fusion of the maxilla and mandible, poses significant feeding and respiratory challenges. Its management is complicated by rarity and potential syndromic associations. We present a 1‐week‐old female neonate who presented with left jaw deviation, respiratory distress (SpO2 69%, tachypnea), and fever.
Asteway M. Haile, Biruk T. Mengistie, Tinsae Y. Tamiru, Chernet T. Mengistie, Dawit G. Abebe, Bezawit M. Haile   +5 more
wiley   +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