Results 21 to 30 of about 2,067 (196)

Twenty Year review for Craniofacial Distraction in syndromic craniosynostosis

Archives of Pediatric Neurosurgery, 2023
Introduction: Craniosynostosis are cranial deformities resulting from the early closure of one or more sutures. Concomitant facial changes usually result from the involvement of multiple sutures, which may lead to restriction of cranial growth and brain ...
Ricardo Santos de Oliveira, Matheus Ballestero, Paulo Barrero Marques-Netto, André Andó   +3 more
doaj   +1 more source

Morphometry and morphology of rostral cranial fossa in brachycephalic dogs - CT studies.

PLoS ONE, 2020
Hydrocephalus occurs more often in brachycephalic individuals of different species. Detailed analysis of rostral cranial fossa-region of cerebrospinal fluid outflow-is necessary to understand causes leading to hydrocephalus in specimens with shortened ...
Wojciech Sokołowski, Karolina Barszcz, Marta Kupczyńska, Michał Czopowicz, Norbert Czubaj, Wojciech Kinda, Zdzisław Kiełbowicz   +6 more
doaj   +2 more sources

Surgical Technique in Pediatric Craniofacial Surgery

Archives of Pediatric Neurosurgery, 2022
The surgical correction of non-syndromic and syndromic craniosynostoses (CS) presents several challenges mainly related to the complexity of skull reconstruction, along with the risk of blood loss.
Leopoldo Mandic Ferreira Furtado, José Aloysio da Costa Val Filho, Aieska Kellen Dantas Dantas dos Santos, Rayane Toledo Simas, João Paulo Uvera Ferreira   +4 more
doaj   +1 more source

Evaluation of Low-Dose 3D Skull CT Images in Craniosynostosis [PDF]

Iranian Journal of Medical Physics, 2022
Introduction: Computed Tomography (CT) is nowadays used widely to differentiate normal brain cranium sutures from abnormal ones in pediatric patients with the aim of early treatment.
Fariba Zarei, Zeynab Mashayekhi, Vani Vardhan Chatterjee, Sabysachi chatterjee, Rezvan Ravanfar Haghighi   +4 more
doaj   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022
Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli, Alfia Fatma, Mohammed A. Almatrafi, Mayada Mazroua, Bosco Paes, Yoshiyuki Ban   +5 more
wiley   +1 more source

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +5 more sources

Polycystin‐1 modulates RUNX2 activation and osteocalcin gene expression via ERK signalling in a human craniosynostosis cell model

Journal of Cellular and Molecular Medicine, Volume 25, Issue 7, Page 3216-3225, April 2021., 2021
Abstract Craniosynostosis refers to the premature fusion of one or more cranial sutures leading to skull shape deformities and brain growth restriction. Among the many factors that contribute to abnormal suture fusion, mechanical forces seem to play a major role.
Maira Katsianou, Kostas A. Papavassiliou, Ilianna Zoi, Antonios N. Gargalionis, Dimitrios Panagopoulos, Marios S. Themistocleous, Christina Piperi, Athanasios G. Papavassiliou, Efthimia K. Basdra   +8 more
wiley   +1 more source

Dexmedetomidine as an Opioid-Sparing Agent in Pediatric Craniofacial Surgery

Children, 2020
Pediatric craniofacial reconstruction surgery is associated with significant perioperative analgesic requirements. As dexmedetomidine mediates central nervous system sympathetic activity and pain modulation, its intraoperative use could be beneficial in ...
Srijaya K. Reddy, Jacob J. Jones, Heather Gordish-Dressman, Sophie R. Pestieau   +3 more
doaj   +1 more source

Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts [PDF]

, 2013
The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes.
A Mansukhani, AK Coussens, BD Stamper, BK Huang, BU Ang, C Owen, C Yao, CB Harvey, CH Shackleton, CW Li, D Gomez, D Johnson, DC Robinson, DP Rice, DT Gault, G Radetti, G Ramajayam, GA Brent, GM Morriss-Kay, GR Williams, H Kohara, H Miraoui, HJ Kim, J Connerney, J Esparza, J Zumbrunn, JA Greenwald, Jack C. Yu, James J. Cray, JH Bassett, JH Oh, JL Penfold, JM Britto, JQ Feng, JS Morey, K Kasono, KA Kapp-Simon, Kameron Khaksarfard, KM Lee, M Bodo, M Menking, M Segni, MH Sheng, MM Cohen Jr, Mohammed Elsalanty, PJ Marie, R Rice, S Akita, S Wadhwa, S Weiss, SA Boyadjiev, SA Rasmussen, Seth M. Weinberg, W Arlt, W Riggs Jr, WM Chadduck, Xing-Ming Shi, Y Xiong, Z von Marschall   +58 more
core   +2 more sources