{"id":230,"date":"2023-04-28T21:00:00","date_gmt":"2023-04-28T19:00:00","guid":{"rendered":"https:\/\/www.ampnee.org\/blog\/?p=230"},"modified":"2023-04-27T22:55:03","modified_gmt":"2023-04-27T20:55:03","slug":"dia-internacional-del-sindrome-de-wolf-hirschhorn-16-de-abril","status":"publish","type":"post","link":"https:\/\/www.ampnee.org\/blog\/dia-internacional-del-sindrome-de-wolf-hirschhorn-16-de-abril\/","title":{"rendered":"D\u00eda internacional del s\u00edndrome de Wolf-Hirschhorn (16 de abril)"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">El s\u00edndrome Wolf-Hirshhorn se trata de una rara patolog\u00eda gen\u00e9tica, provocada por la \u201cmicrodeleci\u00f3n distal del brazo corto del cromosoma 4\u201d (Avi\u00f1a y Hern\u00e1ndez, 2008, p. 51). Por ende, se describe como una \u201ccromosopat\u00eda estructural, un s\u00edndrome polimalformativo (s\u00edndrome 4p-, monosom\u00eda 4p)\u201d (Cammarata-Scalisi et al., 2015, p.48), con una prevalencia de 1 por cada 50.000 nacimientos, siendo el doble de casos en mujeres (Avi\u00f1a y Hern\u00e1ndez, 2008, y Cammarata-Scalisi et al., 2015).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Esta patolog\u00eda fue descubierta por Hirschhorn et al. (1961) y por Wolf et al. (1965), citados en Avi\u00f1a y Hern\u00e1ndez, 2008, y Cammarata-Scalisi et al., 2015, determinando unas caracter\u00edsticas f\u00edsicas, aunque no se dan todas en todos los casos. Estos son (\u00cdbidem):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Microcefalia con asimetr\u00eda craneal.&nbsp;<\/li>\n\n\n\n<li>Nariz ancha.&nbsp;<\/li>\n\n\n\n<li>Cara con aspecto de \u201ccasco de guerrero griego\u201d.<\/li>\n\n\n\n<li>Boca con forma de carpa.<\/li>\n\n\n\n<li>Hipertelorismo.&nbsp;<\/li>\n\n\n\n<li>Fisuras palpebrales oblicuas.&nbsp;<\/li>\n\n\n\n<li>Frente amplia con glabela prominente.<\/li>\n\n\n\n<li>Orejas displ\u00e1sicas con implantaci\u00f3n baja y retrognatia.&nbsp;<\/li>\n\n\n\n<li>Convulsiones a edad temprana.&nbsp;<\/li>\n\n\n\n<li>Cardiopat\u00edas cong\u00e9nitas.<\/li>\n\n\n\n<li>Hipoton\u00edas musculares generalizadas.&nbsp;<\/li>\n\n\n\n<li>Discapacidad mental.<\/li>\n\n\n\n<li>Paladar hendido en la mitad de los casos.<\/li>\n\n\n\n<li>Hipospadias en varones.&nbsp;<\/li>\n\n\n\n<li>Criptorquidia en varones.&nbsp;<\/li>\n\n\n\n<li>P\u00e9rdida de audici\u00f3n en algunos casos.<\/li>\n\n\n\n<li>Posibilidad de enfermedades hep\u00e1ticas o de ves\u00edcula biliar.&nbsp;<\/li>\n\n\n\n<li>Alteraciones diafragm\u00e1ticas.&nbsp;<\/li>\n\n\n\n<li>Alteraciones esof\u00e1gicas.&nbsp;<\/li>\n\n\n\n<li>Defectos intestinales.&nbsp;<\/li>\n\n\n\n<li>Patolog\u00edas pulmonares.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">De modo que sus criterios diagn\u00f3sticos son (\u00cdbidem):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dismorfia facial en \u201cyelmo griego\u201d.<\/li>\n\n\n\n<li>Retraso en el crecimiento y psicomotor.&nbsp;<\/li>\n\n\n\n<li>D\u00e9ficits neurol\u00f3gicos (discapacidad mental, convulsiones e hipoton\u00eda).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Finalmente, se han establecido tres categor\u00edas seg\u00fan su gravedad (Avi\u00f1a y Hern\u00e1ndez, 2008):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>Leve<\/em>: pacientes con discapacidad cognitiva leve, lenguaje fluido e independencia al andar a los 2-3 a\u00f1os.<\/li>\n\n\n\n<li><em>Cl\u00e1sica<\/em>: malformaciones con alteraciones motoras y lenguaje con alteraciones severas.<\/li>\n\n\n\n<li><em>Severa<\/em>: discapacidad mental y psicomotor severo, dismorfia facial, conducta psic\u00f3tica y escoliosis severa.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Referencias bibliogr\u00e1ficas<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Avi\u00f1a, J.A., y Hern\u00e1ndez, D.A. (2008). S\u00edndrome de Wolf-Hirschhorn: Microdeleci\u00f3n distal del brazo corto del cromosoma 4. R<em>evista Chilena de Pediatr\u00eda, 79<\/em>(1), 50-53.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cammarata-Scalisi, F., Callea, M., Araque, D., Lacruz-Rengel, M.A., Da Silva, G., Ram\u00edrez, R.J., y L\u00f3pez, F. (2015). Caracter\u00edsticas cl\u00ednicas y citogen\u00e9ticas en el s\u00edndrome de Wolf-Hirschhorn. Serie de casos. <em>Avances en Biomedicina, 2<\/em>(4), 48-55.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El s\u00edndrome Wolf-Hirshhorn se trata de una rara patolog\u00eda gen\u00e9tica, provocada por la \u201cmicrodeleci\u00f3n distal del brazo corto del cromosoma 4\u201d (Avi\u00f1a y Hern\u00e1ndez, 2008, &hellip; <\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[17,18,35],"class_list":["post-230","post","type-post","status-publish","format-standard","hentry","category-informacion","tag-discapacidad","tag-necesidadeseducativasespeciales","tag-wolf-hirschhorn"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>D\u00eda internacional del s\u00edndrome de Wolf-Hirschhorn (16 de abril) - EL RINC\u00d3N DE AMPNEE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ampnee.org\/blog\/dia-internacional-del-sindrome-de-wolf-hirschhorn-16-de-abril\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"D\u00eda internacional del s\u00edndrome de Wolf-Hirschhorn (16 de abril) - 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