108558 20230706131413.0 doi 10.1186/s13023-021-02082-y sideral 125101 ART-2021-125101 eng Pablo, M.J. High rate of autonomic neuropathy in Cornelia de Lange Syndrome 2021 Access copy available to the general public Unrestricted Background: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. Method: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. Results: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. Conclusions: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging. info:eu-repo/grantAgreement/ES/DGA/B32-17R info:eu-repo/grantAgreement/ES/FIS/PI19-01860 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 4.302 2021 MEDICINE, RESEARCH & EXPERIMENTAL 68 / 139 = 0.489 2021 Q2 T2 GENETICS & HEREDITY 61 / 175 = 0.349 2021 Q2 T2 1.105 2021 Pharmacology (medical) 2021 Q1 Medicine (miscellaneous) 2021 Q1 5.2 2021 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Pamplona, P. Haddad, M. Benavente, I. Latorre-Pellicer, A. Arnedo, M. Universidad de Zaragoza (orcid)0000-0001-9962-2157 Trujillano, L. Bueno-Lozano, G. Universidad de Zaragoza (orcid)0000-0002-0902-387X Kerr, L.M. Huisman, S.A. Kaiser, F.J. Ramos, F. Universidad de Zaragoza (orcid)0000-0002-5732-2209 Kline, A.D. Pie, J. Universidad de Zaragoza (orcid)0000-0003-3203-6254 Puisac, B. Universidad de Zaragoza (orcid)0000-0003-0170-7326 1012 410 Universidad de Zaragoza Dpto. Farmac.Fisiol.y Med.L.F. Área Fisiología 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 16 (2021), 458 [8 pp.] Orphanet j. rare dis. Orphanet Journal of Rare Diseases 1750-1172 1728384 http://zaguan.unizar.es/record/108558/files/texto_completo.pdf Versión publicada 2540332 http://zaguan.unizar.es/record/108558/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:108558 articulos driver 2023-07-06-12:20:55 ARTICLE