Defectos de reducción de extremidades en Asturias, 1986–1997: prevalencia y presentación clínica

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Ballabriga, M. Moya, M. Bueno, J. Cornellá, J. Dalmau, E. Doménech, R. Tojo, R. Tormo, J.C. Vitoria, J.M. Martinón, M. Martín, I. Cano, J. Cubells, E. Alustiza, P. Sanjurjo" "autores" => array:16 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Ballabriga" ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Moya" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "Bueno" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "Cornellá" ] 4 => array:2 [ "nombre" => "J." "apellidos" => "Dalmau" ] 5 => array:2 [ "nombre" => "E." "apellidos" => "Doménech" ] 6 => array:2 [ "nombre" => "R." "apellidos" => "Tojo" ] 7 => array:2 [ "nombre" => "R." "apellidos" => "Tormo" ] 8 => array:2 [ "nombre" => "J.C." "apellidos" => "Vitoria" ] 9 => array:2 [ "nombre" => "J.M." "apellidos" => "Martinón" ] 10 => array:2 [ "nombre" => "M." "apellidos" => "Martín" ] 11 => array:2 [ "nombre" => "I." "apellidos" => "Cano" ] 12 => array:2 [ "nombre" => "J." "apellidos" => "Cubells" ] 13 => array:2 [ "nombre" => "E." 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"apellidos" => "Orbea Gallardo" ] 5 => array:2 [ "nombre" => "G." "apellidos" => "Bustos Lozano" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300773577?idApp=UINPBA00005H" "url" => "/16954033/0000005200000004/v1_201307051457/S1695403300773577/v1_201307051457/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Defectos de reducción de extremidades en Asturias, 1986–1997: prevalencia y presentación clínica" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "362" "paginaFinal" => "368" ] ] "autores" => array:2 [ 0 => array:4 [ "autoresLista" => "I. Riaño Galán" "autores" => array:1 [ 0 => array:4 [ "nombre" => "I." "apellidos" => "Riaño Galán" "email" => array:1 [ 0 => "isogalan@teleline.es" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Servicio de Pediatría de Hospital Narcea. Cangas del Narcea. Grupo de trabajo del Registro de DefectosCongénitos de Asturias" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Fuertes Acevedo, 96, 6.° A. 33006 Oviedo." ] ] ] 1 => array:3 [ "autoresLista" => "J. Fernández Toral, E. García López, C. Moro Bayón, C. Mosquera Tenreiro, A. Rodríguez Fernández, E. Suárez Menéndez, F. Ariza Hevia, A. Franganillo Fernández" "autores" => array:8 [ 0 => array:3 [ "nombre" => "J." "apellidos" => "Fernández Toral" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "E." 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"apellidos" => "Franganillo Fernández" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "INSALUD y Sanidad del Principado de Asturias. Oviedo." "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Consejería de Servicios Sociales y Sanidad del Principado de Asturias. Oviedo." "etiqueta" => "b" "identificador" => "aff0010" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Limb reduction defects in asturias (1986–1997): prevalence and clinical presentation" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "1999-07-31" "fechaAceptado" => "2000-01-31" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186298" "palabras" => array:3 [ 0 => "Defectos congénitos" 1 => "Reducción de extremidades" 2 => "Registros de base poblacional" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186297" "palabras" => array:3 [ 0 => "Congenital defects" 1 => "Limb reduction" 2 => "Population-based" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "ObjetivoConocer la prevalencia y forma de presentación clínicade los defectos por reducción de extremidades en la poblaciónasturiana. Pacientes y métodosEstudio de niños con defectos de reducción de extremidadesentre los 91.300 nacidos vivos, nacidos muertosmayores de 500 g y abortos inducidos por defectos congénitos, de mujeres residentes en Asturias, controladospor el Registro de Defectos Congénitos de Asturias (registrode base poblacional) en el período 1986-1997. La frecuenciase expresa como prevalencia total por 10.000 nacidos. ResultadosDurante el período estudiado, se registraron 73 casos, siendo la prevalencia total de 8 por 10.000 (intervalo deconfianza del 95%, 6,2-9,8). El 65,7% de las anomalíasobservadas afectaban a las extremidades superiores, el23,3% a las inferiores y el 11% a ambas. El 49,3% presentabaun defecto terminal transverso, el 16,4% un defectointercalar, el 8,2% longitudinal preaxial, el 9,6%longitudinal postaxial, el 9,6% mano o pie hendido, y enel 6,8% el defecto era múltiple. El 52% eran formas aisladasy el 48% se manifestaron como defecto asociado aotras malformaciones. En 4 existía alteración cromosómica, y en 20 la reducción de extremidades formabaparte de un síndrome, asociación o secuencia definida. El 31,5% presentaba bajo peso para la edad de gestación. En tres madres se constató ingestión importante de alcohol. ConclusionesEl estudio detallado de los defectos congénitos por reducciónde extremidades permite un mejor conocimientode sus formas clínicas de presentación, además de acercarnos a un diagnóstico etiopatogénico, con posibilidadde actuar sobre los factores de riesgo." ] "en" => array:1 [ "resumen" => "ObjectiveTo determine the prevalence and clinical presentationof limb reduction defects in Asturias (Spain). Patients and methodsAmong the 92300 newborns, stillbirths and inducedabortions for congenital defects surveyed by the Registryof Congenital Defects in Asturias (population-based registry)during 1986-1997, we studied the children withlimb reduction defects. Frequency is expressed as totalprevalence per 10000 births. ResultsSeventy-three children with limb reduction defects wereidentified, with a total prevalence of 8 per 10000 births (CI6.2-9.8): upper limbs were affected in 65.7%, lower limbs in23.3% and both upper and lower limbs were affected in 11%.Transverse terminal defects were present in 49.3%, andwere intercalcar/intercalary in 16.4%, preaxial longitudinalin 8.2%, postaxial longitudinal in 9.6%, split hand/footin 9.6% and multiple in 6.8%. Limb deficiencies werefound in 52%; of these, 48% were associated with othercongenital defects. Four had chromosomal anomaliesand 20 were syndromes. 31% had low birth weight fortheir gestational age. Alcohol exposure during pregnancywas recorded in three mothers. 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Estadísticas

Limb reduction defects in asturias (1986–1997): prevalence and clinical presentation

I. Riaño Galán

Autor para correspondencia

isogalan@teleline.es

Correspondencia: Fuertes Acevedo, 96, 6.° A. 33006 Oviedo.

Servicio de Pediatría de Hospital Narcea. Cangas del Narcea. Grupo de trabajo del Registro de DefectosCongénitos de Asturias

J. Fernández Torala, E. García Lópeza, C. Moro Bayóna, C. Mosquera Tenreirob, A. Rodríguez Fernándeza, E. Suárez Menéndeza, F. Ariza Heviaa, A. Franganillo Fernándeza

a INSALUD y Sanidad del Principado de Asturias. Oviedo.

b Consejería de Servicios Sociales y Sanidad del Principado de Asturias. Oviedo.

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        "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Conocer la prevalencia y forma de presentaci&#243;n cl&#237;nicade los defectos por reducci&#243;n de extremidades en la poblaci&#243;nasturiana&#46;</p> <span class="elsevierStyleSectionTitle">Pacientes y m&#233;todos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Estudio de ni&#241;os con defectos de reducci&#243;n de extremidadesentre los 91&#46;300 nacidos vivos&#44; nacidos muertosmayores de 500 g y abortos inducidos por defectos cong&#233;nitos&#44; de mujeres residentes en Asturias&#44; controladospor el Registro de Defectos Cong&#233;nitos de Asturias &#40;registrode base poblacional&#41; en el per&#237;odo 1986-1997&#46; La frecuenciase expresa como prevalencia total por 10&#46;000 nacidos&#46;</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Durante el per&#237;odo estudiado&#44; se registraron 73 casos&#44; siendo la prevalencia total de 8 por 10&#46;000 &#40;intervalo deconfianza del 95&#37;&#44; 6&#44;2-9&#44;8&#41;&#46; El 65&#44;7&#37; de las anomal&#237;asobservadas afectaban a las extremidades superiores&#44; el23&#44;3&#37; a las inferiores y el 11&#37; a ambas&#46; El 49&#44;3&#37; presentabaun defecto terminal transverso&#44; el 16&#44;4&#37; un defectointercalar&#44; el 8&#44;2&#37; longitudinal preaxial&#44; el 9&#44;6&#37;longitudinal postaxial&#44; el 9&#44;6&#37; mano o pie hendido&#44; y enel 6&#44;8&#37; el defecto era m&#250;ltiple&#46; El 52&#37; eran formas aisladasy el 48&#37; se manifestaron como defecto asociado aotras malformaciones&#46; En 4 exist&#237;a alteraci&#243;n cromos&#243;mica&#44; y en 20 la reducci&#243;n de extremidades formabaparte de un s&#237;ndrome&#44; asociaci&#243;n o secuencia definida&#46; El 31&#44;5&#37; presentaba bajo peso para la edad de gestaci&#243;n&#46; En tres madres se constat&#243; ingesti&#243;n importante de alcohol&#46;</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El estudio detallado de los defectos cong&#233;nitos por reducci&#243;nde extremidades permite un mejor conocimientode sus formas cl&#237;nicas de presentaci&#243;n&#44; adem&#225;s de acercarnos a un diagn&#243;stico etiopatog&#233;nico&#44; con posibilidadde actuar sobre los factores de riesgo&#46;</p>"
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        "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">To determine the prevalence and clinical presentationof limb reduction defects in Asturias &#40;Spain&#41;&#46;</p> <span class="elsevierStyleSectionTitle">Patients and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Among the 92300 newborns&#44; stillbirths and inducedabortions for congenital defects surveyed by the Registryof Congenital Defects in Asturias &#40;population-based registry&#41;during 1986-1997&#44; we studied the children withlimb reduction defects&#46; Frequency is expressed as totalprevalence per 10000 births&#46;</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Seventy-three children with limb reduction defects wereidentified&#44; with a total prevalence of 8 per 10000 births &#40;CI6&#46;2-9&#46;8&#41;&#58; upper limbs were affected in 65&#46;7&#37;&#44; lower limbs in23&#46;3&#37; and both upper and lower limbs were affected in 11&#37;&#46;Transverse terminal defects were present in 49&#46;3&#37;&#44; andwere intercalcar&#47;intercalary in 16&#46;4&#37;&#44; preaxial longitudinalin 8&#46;2&#37;&#44; postaxial longitudinal in 9&#46;6&#37;&#44; split hand&#47;footin 9&#46;6&#37; and multiple in 6&#46;8&#37;&#46; Limb deficiencies werefound in 52&#37;&#59; of these&#44; 48&#37; were associated with othercongenital defects&#46; Four had chromosomal anomaliesand 20 were syndromes&#46; 31&#37; had low birth weight fortheir gestational age&#46; Alcohol exposure during pregnancywas recorded in three mothers&#46;</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">A detailed study of limb reduction defects could lead toa better understanding of clinical presentation and to anetio-pathogenic diagnosis to control risk factors&#46;</p>"
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                      "titulo" => "Physical mapping of the split hand&#47; split foot locus on chromosome 7 and implication in syndromic ectrodactyly"
                      "autores" => array:1 [
                        0 => array:2 [
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                            4 => "T&#46; Allen"
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Información del artículo

ISSN: 16954033
Idioma original: Español

DOI:10.1016/S1695-4033(00)77358-9

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2013 Septiembre	19	6	25
2013 Agosto	7	7	14
2013 Julio	4	6	10
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2013 Enero	12	5	17
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