000108558 001__ 108558 000108558 005__ 20230706131413.0 000108558 0247_ $$2doi$$a10.1186/s13023-021-02082-y 000108558 0248_ $$2sideral$$a125101 000108558 037__ $$aART-2021-125101 000108558 041__ $$aeng 000108558 100__ $$aPablo, M.J. 000108558 245__ $$aHigh rate of autonomic neuropathy in Cornelia de Lange Syndrome 000108558 260__ $$c2021 000108558 5060_ $$aAccess copy available to the general public$$fUnrestricted 000108558 5203_ $$aBackground: 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. 000108558 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/FIS/PI19-01860 000108558 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000108558 590__ $$a4.302$$b2021 000108558 592__ $$a1.105$$b2021 000108558 594__ $$a5.2$$b2021 000108558 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b68 / 139 = 0.489$$c2021$$dQ2$$eT2 000108558 593__ $$aPharmacology (medical)$$c2021$$dQ1 000108558 591__ $$aGENETICS & HEREDITY$$b61 / 175 = 0.349$$c2021$$dQ2$$eT2 000108558 593__ $$aMedicine (miscellaneous)$$c2021$$dQ1 000108558 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000108558 700__ $$aPamplona, P. 000108558 700__ $$aHaddad, M. 000108558 700__ $$aBenavente, I. 000108558 700__ $$aLatorre-Pellicer, A. 000108558 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, M.$$uUniversidad de Zaragoza 000108558 700__ $$aTrujillano, L. 000108558 700__ $$0(orcid)0000-0002-0902-387X$$aBueno-Lozano, G.$$uUniversidad de Zaragoza 000108558 700__ $$aKerr, L.M. 000108558 700__ $$aHuisman, S.A. 000108558 700__ $$aKaiser, F.J. 000108558 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.$$uUniversidad de Zaragoza 000108558 700__ $$aKline, A.D. 000108558 700__ $$0(orcid)0000-0003-3203-6254$$aPie, J.$$uUniversidad de Zaragoza 000108558 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza 000108558 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología 000108558 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría 000108558 773__ $$g16 (2021), 458 [8 pp.]$$pOrphanet j. rare dis.$$tOrphanet Journal of Rare Diseases$$x1750-1172 000108558 8564_ $$s1728384$$uhttps://zaguan.unizar.es/record/108558/files/texto_completo.pdf$$yVersión publicada 000108558 8564_ $$s2540332$$uhttps://zaguan.unizar.es/record/108558/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000108558 909CO $$ooai:zaguan.unizar.es:108558$$particulos$$pdriver 000108558 951__ $$a2023-07-06-12:20:55 000108558 980__ $$aARTICLE