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American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Emergent cardiopulmonary bypass during pectus excavatum repair
Annals of Cardiac Anaesthesia, 2013 Pectus excavatum is a chest wall deformity that produces significant cardiopulmonary disability and is typically seen in younger patients. Minimally invasive repair of pectus excavatum or Nuss procedure has become a widely accepted technique for adult ...
Ryan Craner +2 more
doaj +1 more source
Tratamiento del Pectus excavatum con cirugía minimamente invasiva con la técnica de Donald Nuss
Revista Médica Herediana, 2011 El Pectus excavatum, es una malformación congénita de la pared anterior del tórax, caracterizada por una depresión del esternón. Objetivo: Evaluar los resultados del tratamiento quirúrgico en pacientes con pectus excavatum, utilizando la técnica de Nuss.
Mario Lopez-Carranza +7 more
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Pectus excavatum and heritable disorders of the connective tissue
Pediatric Reports, 2013 Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder.
Francesca Tocchioni +3 more
doaj +1 more source
Scientific ReportsPectus excavatum is the most encountered of chest wall deformities. It may produce respiratory and cardiovascular symptoms, hence surgical repair of this defect is performed. The procedure involving the insertion of metal bars under the sternum (the Nuss
Maria Jarosz +5 more
doaj +1 more source
Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome
Journal of Anaesthesiology Clinical Pharmacology, 2013 Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection.
Bhuvnesh Kansara +3 more
doaj +1 more source
Pectus excavatum: abordagem terapêutica
Revista do Colégio Brasileiro de CirurgiõesThe pectus excavatum treatment has two different approaches: non-surgical techniques (modified dynamic thoracic compressor, exercises and the vacuum bell) or surgical techniques (silastic or solid silicone implant, open surgical repair like ...
Marlos de Souza Coelho +1 more
doaj +1 more source
Experiencia con la reconstrucción quirúrgica de las deformidades de la pared torácica
Acta Médica Costarricense, 2010 Objetivo: Analizar las características clínicas, indicación para realizar la intervención y los resultados de la cirugía de pacientes con deformidades de la pared torácica.
Jose A Mainieri-Hidalgo +1 more
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