Results 61 to 70 of about 13,286 (221)

Short report: craniosynostosis, a late complication of nutritional rickets [PDF]

, 2021
OBJECTIVES: Nutritional rickets may be a preventable cause of craniosynostosis. This potential association is under-recognised. A late diagnosis of craniosynostosis may result in reduced brain growth, raised intracranial pressure and long-term ...
Mughal, M.Z., Gilbey-Cross, R., Cheung, M.S., Offiah, A.C., Forestier-Zhang, L.Y., Arundel, P.   +5 more
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Sp1-activated FGFR2 is involved in early-life exposure to nickel-induced craniosynostosis by regulating the ERK1/2 signaling pathway

Environment International
Nickel, a common environmental hazard, is a risk factor for craniosynostosis. However, the underlying biological mechanism remains unclear. Here, we found that early-life nickel exposure induced craniosynostosis in mice.
Zhenkun Weng, Cheng Xu, Xiu Chen, Qing Yan, Zuqiang Fu, Jian Jiao, Jin Xu, Qian Liu, Dongmei Wang, Jingjia Liang, Wenxiang Li, Aihua Gu   +11 more
doaj   +1 more source

Preoperative Anemia and Perioperative Outcomes in Children: Prevalence, Risk Factors, and Associations in an Australian Cohort

Pediatric Anesthesia, EarlyView.
ABSTRACT Aims Preoperative anemia is a potentially modifiable risk factor in children undergoing surgery, but contemporary data describing its prevalence and associated outcomes in high‐income settings are limited. We aimed to determine the prevalence of anemia in a pediatric major‐surgery surgical cohort, identify associated demographic and clinical ...
Matthew Hart, Alexandra Batinic, Justin Skowno   +2 more
wiley   +1 more source

Automated surgical planning in spring-assisted sagittal craniosynostosis correction using finite element analysis and machine learning.

PLoS ONE, 2023
Sagittal synostosis is a condition caused by the fused sagittal suture and results in a narrowed skull in infants. Spring-assisted cranioplasty is a correction technique used to expand skulls with sagittal craniosynostosis by placing compressed springs ...
Jenson Jacob, Selim Bozkurt
doaj   +1 more source

Craniosynostosis in Kabuki syndrome

, 2010
Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation.
Juan F. Martínez-Lage, Antonio López López-Guerrero, Matías Felipe-Murcia, María-José Almagro, Encarna Guillén Navarro, Miguel A. Pérez-Espejo   +5 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Epidemiology of craniosynostosis in Norway

, 2020
OBJECTIVE The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases.
Stadheim, Barbro F., Heimdal, Ketil R., Due-Tønnessen, Bernt J., Tønne, Elin, Meling, Torstein Ragnar, Helseth, Eirik, Wiig, Ulrikke, Wiig, Ulrikke Straume, Heimdal, Ketil Riddervold, Due-Tønnessen, Bernt Johan, Stadheim, Barbro, Meling, Torstein   +11 more
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Multidisciplinary care of craniosynostosis

Journal of Multidisciplinary Healthcare, 2017
Edward P Buchanan,1 Yunfeng Xue,1 Amy S Xue,1 Asaf Olshinka,1 Sandi Lam2 1Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, 2Michael E. DeBakey Department of Surgery, Division of Neurosurgery, Baylor College of Medicine, Houston, TX,
Buchanan EP, Xue Y, Xue AS, Olshinka A, Lam S   +4 more
doaj