Results 81 to 90 of about 130,744 (316)

A Characterization of Pediatric Craniofacial Injuries from Children’s Toys

, 2023
Introduction:Playing with toys contributes significantly to the cognitive, physical, and social development of children. Certain toys, unfortunately, carry the potential for serious craniofacial injury.
Treger, Dylan, Ethan Plotsker, Seth R. Thaller, Thaller, Seth R., Plotsker, Ethan, Dylan Treger   +5 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Surface modification of PEEK implants for craniofacial reconstruction and aesthetic augmentation—fiction or reality?

Frontiers in Surgery
Facial implantology, a crucial facet of plastic and reconstructive surgery, focuses on optimizing implant materials for facial augmentation and reconstruction.
Martin Kauke-Navarro, Martin Kauke-Navarro, Leonard Knoedler, Leonard Knoedler, Samuel Knoedler, Samuel Knoedler, Can Deniz, Ali-Farid Safi, Ali-Farid Safi   +8 more
doaj   +1 more source

Validation of a fibula graft cutting guide for mandibular reconstruction: experiment with rapid prototyping mandible model

Computer Assisted Surgery, 2016
Objective: We examined whether cutting a fibula graft with a surgical guide template, prepared with computer-aided design/computer-aided manufacturing (CAD/CAM), would improve the precision and accuracy of mandibular reconstruction.
Se-Ho Lim, Yeon-Ho Kim, Moon-Key Kim, Woong Nam, Sang-Hoon Kang   +4 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Gene regulatory dynamics during craniofacial development in a carnivorous marsupial

eLife
Marsupials and placental mammals exhibit significant differences in reproductive and life history strategies. Marsupials are born highly underdeveloped after an extremely short period of gestation, leading to prioritized development of structures ...
Laura E Cook, Charles Y Feigin, John D Hills, Davide M Vespasiani, Andrew J Pask, Irene Gallego Romero   +5 more
doaj   +1 more source

Stickler Sendromuna Genel Bakış: Bir Derleme Çalışması

Dil, Konuşma ve Yutma Araştırmaları Dergisi, 2021
Amaç: Stickler Sendromu (STL) konjenital olarak ortaya çıkan ve çocuğun farklı gelişim alanlarını etkileyen bir bağ dokusu bozukluğudur. Bu çalışmanın amacı, STL’ye ilişkin alanyazındaki çalışmaların taranarak sendromun genel özellikleri, klinik ...
Ayşe Işıldar
doaj  

Craniofacial growth theory and orthodontic treatment

, 1990
http://babel.hathitrust.org/cgi/pt?id=uc1.l0061452249;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source