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        "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Revisi&#243;n retrospectiva de una serie de 82 casos de s&#237;ndrome de Williams-Beuren y los trastornos asociados</p> <span class="elsevierStyleSectionTitle">Material y m&#233;todos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Cohorte de 82 pacientes&#44; 47 varones y 35 mujeres&#44; que consultaron en hospital por retraso psicomotor y&#47;o por cardiopat&#237;a cong&#233;nita&#46; Se estudiaron principalmente desde el punto de vista neurol&#243;gico y cardiol&#243;gico y&#44; en segundo lugar&#44; endocrinol&#243;gico y nefrol&#243;gico&#46; Desde que se describi&#243; la alteraci&#243;n cromos&#243;mica que provoca el cuadro&#44; se practica el cariotipo a todos los casos sospechosos de s&#237;ndrome de Williams-Beuren</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Las alteraciones principales consistieron en&#58; facies peculiar &#40;100 &#37;&#41;&#59; retraso ps&#237;quico con actitud amistosa &#40;90 &#37;&#41;&#59; cardiopat&#237;a cong&#233;nita &#40;85&#44;4 &#37;&#41;&#44; siendo las estenosis a&#243;rtica supravalvular&#44; aislada &#40;60 &#37;&#41; o asociada a estenosis pulmonar &#40;12 &#37;&#41;&#44; la malformaci&#243;n m&#225;s frecuente &#40;72 &#37;&#41;&#59; trastorno por d&#233;ficit de atenci&#243;n con hiperactividad &#40;SDAHA&#41;&#44; que se apreciaba en la mayor&#237;a de los casos&#44; varones y mujeres&#44; a partir de los 5&#8211;6 a&#241;os&#59; iniciaci&#243;n de la marcha y del lenguaje tard&#237;os en aproximadamente el 90 &#37;&#46; El peso al nacer estaba por debajo de los 3&#46;000 g en el 65 &#37; de los casos en que este dato era consignado en las historias cl&#237;nicas&#46; Once de nuestros 13 casos estudiados &#40;84&#44;5 &#37;&#41; mostraron la deleci&#243;n del s&#237;ndrome de Williams- Beuren</p> <span class="elsevierStyleSectionTitle">Conclusi&#243;n</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Los pacientes con este s&#237;ndrome deben ser estudiados multidisciplinarmente&#46; La mayor&#237;a de ellos precisan ayuda en su escolaridad y encauzamiento profesional posterior</p>"
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        "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome &#40;WBS&#41; and associated diseases</p> <span class="elsevierStyleSectionTitle">Material and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A series of 82 patients &#40;47 males and 35 females&#41; who consulted at the hospital because of mental retardation and&#47;or congenital cardiopathy were included&#46; The patients were studied mainly from a neurological and cardiological point of view&#44; and secondarily because of endocrinological and nephrological problems&#46; Since description of the chromosomal abnormalities provoking the syndrome&#44; we perform karyotyping in all patients with suspected WBS</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Alterations mainly consisted of distinctive facial appearance &#40;100 &#37;&#41;&#44; mental retardation with friendly behavior &#40;90 &#37;&#41;&#44; congenital cardiopathy &#40;85&#46;4 &#37;&#41;&#44; mostly consisting of supravalvular aortic stenosis &#40;72 &#37;&#41;&#44; with &#40;12&#37;&#41; or without &#40;60 &#37;&#41; pulmonary stenosis&#44; and behavior typical of attention deficit-hyperactivity disorder&#44; which usually manifested at the age of 4 to 5 years in both boys and girls&#46; Approximately 90 &#37; started to walk and speak later than average&#46; Birthweight was below 3000 g in 65 &#37; of the patients in whom this datum was included in the medical record&#46; Eleven of the 13 patients &#40;84&#46;5&#37;&#41; studied showed the typical deletion of WBS</p> <span class="elsevierStyleSectionTitle">Conclusion</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Study of patients with WBS should be multidisciplinary&#46; Most patients require help during schooling and subsequent vocational guidance</p>"
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Síndrome de Williams-Beuren: presentación de 82 casos
Williams-beuren syndrome. presentation of 82 cases
I. Pascual-Castroviejoa,
Corresponding author
pascas@inves.es

Correspondencia: Orense, 14, 10.° E. 28020 Madrid. España
, S.I. Pascual-Pascuala, F. Moreno Granadob, L. García-Gueretab, R. Gracia-Bouthelierc, M. Navarro Torresd, A. Delicado Navarroe, D. López-Pajarese, R. Palencia Luacesf
a Servicios de Neurología Pediátrica. Hospital Universitario La Paz, Madrid
b Servicios de Cardiología Pediátrica. Hospital Universitario La Paz, Madrid
c Servicios de Endocrinología Pediátrica. Hospital Universitario La Paz, Madrid
d Servicios de Nefrología Pediátrica. Hospital Universitario La Paz, Madrid
e Servicios de Genética. Hospital Universitario La Paz, Madrid
f Unidad de Neurología Pediátrica. Hospital Clínico Universitario. Valladolid. España
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        "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Revisi&#243;n retrospectiva de una serie de 82 casos de s&#237;ndrome de Williams-Beuren y los trastornos asociados</p> <span class="elsevierStyleSectionTitle">Material y m&#233;todos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Cohorte de 82 pacientes&#44; 47 varones y 35 mujeres&#44; que consultaron en hospital por retraso psicomotor y&#47;o por cardiopat&#237;a cong&#233;nita&#46; Se estudiaron principalmente desde el punto de vista neurol&#243;gico y cardiol&#243;gico y&#44; en segundo lugar&#44; endocrinol&#243;gico y nefrol&#243;gico&#46; Desde que se describi&#243; la alteraci&#243;n cromos&#243;mica que provoca el cuadro&#44; se practica el cariotipo a todos los casos sospechosos de s&#237;ndrome de Williams-Beuren</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Las alteraciones principales consistieron en&#58; facies peculiar &#40;100 &#37;&#41;&#59; retraso ps&#237;quico con actitud amistosa &#40;90 &#37;&#41;&#59; cardiopat&#237;a cong&#233;nita &#40;85&#44;4 &#37;&#41;&#44; siendo las estenosis a&#243;rtica supravalvular&#44; aislada &#40;60 &#37;&#41; o asociada a estenosis pulmonar &#40;12 &#37;&#41;&#44; la malformaci&#243;n m&#225;s frecuente &#40;72 &#37;&#41;&#59; trastorno por d&#233;ficit de atenci&#243;n con hiperactividad &#40;SDAHA&#41;&#44; que se apreciaba en la mayor&#237;a de los casos&#44; varones y mujeres&#44; a partir de los 5&#8211;6 a&#241;os&#59; iniciaci&#243;n de la marcha y del lenguaje tard&#237;os en aproximadamente el 90 &#37;&#46; El peso al nacer estaba por debajo de los 3&#46;000 g en el 65 &#37; de los casos en que este dato era consignado en las historias cl&#237;nicas&#46; Once de nuestros 13 casos estudiados &#40;84&#44;5 &#37;&#41; mostraron la deleci&#243;n del s&#237;ndrome de Williams- Beuren</p> <span class="elsevierStyleSectionTitle">Conclusi&#243;n</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Los pacientes con este s&#237;ndrome deben ser estudiados multidisciplinarmente&#46; La mayor&#237;a de ellos precisan ayuda en su escolaridad y encauzamiento profesional posterior</p>"
      ]
      "en" => array:1 [
        "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome &#40;WBS&#41; and associated diseases</p> <span class="elsevierStyleSectionTitle">Material and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A series of 82 patients &#40;47 males and 35 females&#41; who consulted at the hospital because of mental retardation and&#47;or congenital cardiopathy were included&#46; The patients were studied mainly from a neurological and cardiological point of view&#44; and secondarily because of endocrinological and nephrological problems&#46; Since description of the chromosomal abnormalities provoking the syndrome&#44; we perform karyotyping in all patients with suspected WBS</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Alterations mainly consisted of distinctive facial appearance &#40;100 &#37;&#41;&#44; mental retardation with friendly behavior &#40;90 &#37;&#41;&#44; congenital cardiopathy &#40;85&#46;4 &#37;&#41;&#44; mostly consisting of supravalvular aortic stenosis &#40;72 &#37;&#41;&#44; with &#40;12&#37;&#41; or without &#40;60 &#37;&#41; pulmonary stenosis&#44; and behavior typical of attention deficit-hyperactivity disorder&#44; which usually manifested at the age of 4 to 5 years in both boys and girls&#46; Approximately 90 &#37; started to walk and speak later than average&#46; Birthweight was below 3000 g in 65 &#37; of the patients in whom this datum was included in the medical record&#46; Eleven of the 13 patients &#40;84&#46;5&#37;&#41; studied showed the typical deletion of WBS</p> <span class="elsevierStyleSectionTitle">Conclusion</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Study of patients with WBS should be multidisciplinary&#46; Most patients require help during schooling and subsequent vocational guidance</p>"
      ]
    ]
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                        0 => array:2 [
                          "etal" => false
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                      ]
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                      "autores" => array:1 [
                        0 => array:2 [
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                  ]
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ISSN: 16954033
Original language: Spanish
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