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RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
(Wiley-Liss Inc., 2019)
We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, ...
Two sisters resembling Gorlin-Chaudhry-Moss syndrome
(2011)
The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ...
Craniosynostosis, a pediatric perspective Craneosinostosis, una perspectiva pediátrica
(Sociedad Chilena de Pediatria, 2020)
Craneosinostosis, una perspectiva pediátrica
(Sociedad Chilena de Pediatría, 2020)
La craneosinostosis se define como el cierre prematuro de una o más suturas del cráneo, que se
manifiesta por una forma anormal de la cabeza. Es una condición infrecuente, pero requiere ser
reconocida y derivada oportunamente ...
Impact of hypothermia during craniosynostosis repair surgeryImpacto de la hipotermia durante la intervención quirúrgica de craneosinostosis
(Sociedad Colombiana de Anestesiología y ReanimaciónBogotá: Colombia, 2016-07-01)
tIntroduction: Hypothermia is recognized as a risk factor for perioperative complications inpaediatric patients. High surgical risk procedures serve as a model of exposure to that riskfactor. In particular, surgical ...
Anaesthesia in craniosynostosisAnestesia en craneosinostosis
(Sociedad Colombiana de Anestesiología y Reanimación (SCARE)Colombia, 2014-07-14)
Craniosynostosis is a congenital disorder requiring extensive reconstructive surgery thatentails a high probability of severe bleeding, massive transfusion and difficult airway man-agement. Considering that the anaesthetic ...
Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert SyndromeAnálisis molecular de los exones 8, 9 y 10 del gen del factor de crecimiento de fibroblastos (FGFR2) en dos familias con casos índice de síndrome de Apert
(Universidad del ValleCali, Colombia, 2015-09-30)
Introduction: Apert syndrome (AS) is a craniosynostosis condition
caused by mutations in the Fibroblast Growth Factor Receptor 2
(FGFR2) gene. Clinical features include cutaneous and osseous
symmetric syndactily in hands ...
Perspectiva global y acción local para un programa doctoral en ciencias de la salud
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2021-04-07)