{"id":5764,"date":"2023-06-02T09:46:36","date_gmt":"2023-06-02T09:46:36","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=5764"},"modified":"2025-05-02T11:35:39","modified_gmt":"2025-05-02T11:35:39","slug":"endocrinopatias-y-enfermedades-neurogeneticas","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/endocrinopatias-y-enfermedades-neurogeneticas\/","title":{"rendered":"Endocrinopathies and neurogenetic disorders."},"content":{"rendered":"\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/02_aspectos_endocrinologicos_de_los_sindromes_dismorficos.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"Embed of 02_aspectos_endocrinologicos_de_los_sindromes_dismorficos.\"><\/object><a id=\"wp-block-file--media-16b2651e-add8-4e09-935d-b8ed840edd31\" href=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/02_aspectos_endocrinologicos_de_los_sindromes_dismorficos.pdf\">02_aspectos_endocrinologicos_de_los_sindromes_dismorficos<\/a><a href=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/02_aspectos_endocrinologicos_de_los_sindromes_dismorficos.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-16b2651e-add8-4e09-935d-b8ed840edd31\">Descarga<\/a><\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-9e9f73e1\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Macrosom\u00eda, sobrecrecimiento. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"919\" height=\"535\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-24.png\" alt=\"\" class=\"wp-image-5777\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-24.png 919w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-24-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-24-768x447.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-24-18x10.png 18w\" sizes=\"(max-width: 919px) 100vw, 919px\" \/><\/figure>\n\n\n<div id=\"zotpress-0ccd6bebf6d6f42b77ade591bc00ca46\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:U3KZW6HH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span 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id=\"zp-ID-5764-332710-U3KZW6HH\" data-zp-author-date='Brioude-et-al.-2018-04' data-zp-date-author='2018-04-Brioude-et-al.' data-zp-date='2018-04' data-zp-year='2018' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Clinical and molecular diagnosis, screening and management of Beckwith\u2013Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol [Internet]. 2018 Apr [cited 2023 Jun 2];14(4):229\u201349. Available from: <a class='zp-ItemURL' href='https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6022848\/'>https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6022848\/<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n\n\n\n<p>Enfermedades cromos\u00f3micas asociadas con sobrecrecimiento generalizado. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" width=\"520\" height=\"188\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-17.png\" alt=\"\" class=\"wp-image-5767\" style=\"width:851px;height:308px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-17.png 520w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-17-300x108.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-17-18x7.png 18w\" sizes=\"(max-width: 520px) 100vw, 520px\" \/><\/figure>\n\n\n\n<p>S\u00edndromes asociados con macrosom\u00eda pero no sobrecrecimiento m\u00e1s tarde en la vida. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" width=\"520\" height=\"492\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-18.png\" alt=\"\" class=\"wp-image-5768\" style=\"width:867px;height:820px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-18.png 520w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-18-300x284.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-18-13x12.png 13w\" sizes=\"(max-width: 520px) 100vw, 520px\" \/><\/figure>\n\n\n\n<p>S\u00edndromes asociados con macrosom\u00eda\/macrocefalia y incremento del riesgo oncol\u00f3gico. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"520\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-19.png\" alt=\"\" class=\"wp-image-5769\" style=\"width:853px;height:950px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-19.png 520w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-19-269x300.png 269w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-19-11x12.png 11w\" sizes=\"(max-width: 520px) 100vw, 520px\" \/><\/figure>\n\n\n\n<p>Claves cl\u00ednicas para el diagn\u00f3stico diferencial de los distintos s\u00edndromes. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"741\" height=\"720\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-21.png\" alt=\"\" class=\"wp-image-5771\" style=\"width:859px;height:835px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-21.png 741w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-21-300x291.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-21-12x12.png 12w\" sizes=\"(max-width: 741px) 100vw, 741px\" \/><\/figure>\n\n\n\n<p>Algoritmo cl\u00ednico para el estudio del sobrecrecimiento\/macrosom\u00eda generalizado.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"727\" height=\"607\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-20.png\" alt=\"\" class=\"wp-image-5770\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-20.png 727w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-20-300x250.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-20-14x12.png 14w\" sizes=\"(max-width: 727px) 100vw, 727px\" \/><\/figure>\n\n\n<div id=\"zotpress-252a13366c9e4e799fbfc097204ecaa0\" class=\"zp-Zotpress 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id=\"zp-ID-5764-332710-M8YWEA8P\" data-zp-author-date='Kamien-et-al.-2018' data-zp-date-author='2018-Kamien-et-al.' data-zp-date='2018' data-zp-year='2018' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Kamien B, Ronan A, Poke G, Sinnerbrink I, Baynam G, Ward M, et al. A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. MSY [Internet]. 2018 [cited 2019 Sept 5];9(2):70\u201382. Available from: <a class='zp-ItemURL' href='https:\/\/www.karger.com\/Article\/FullText\/484532'>https:\/\/www.karger.com\/Article\/FullText\/484532<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Obesidad. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"654\" height=\"318\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/apem-2244188-094f2.jpg\" alt=\"\" class=\"wp-image-7865\" style=\"width:1222px;height:auto\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/apem-2244188-094f2.jpg 654w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/apem-2244188-094f2-300x146.jpg 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/apem-2244188-094f2-18x9.jpg 18w\" sizes=\"(max-width: 654px) 100vw, 654px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"613\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-22.png\" alt=\"\" class=\"wp-image-5772\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-22.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-22-300x180.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-22-768x460.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-22-18x12.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"958\" height=\"587\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Albright.png\" alt=\"\" class=\"wp-image-7862\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Albright.png 958w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Albright-300x184.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Albright-768x471.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Albright-18x12.png 18w\" sizes=\"(max-width: 958px) 100vw, 958px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"964\" height=\"585\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Alstrom.png\" alt=\"\" class=\"wp-image-7863\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Alstrom.png 964w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Alstrom-300x182.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Alstrom-768x466.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Alstrom-18x12.png 18w\" sizes=\"(max-width: 964px) 100vw, 964px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"916\" height=\"527\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Bardet-bield.png\" alt=\"\" class=\"wp-image-7864\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Bardet-bield.png 916w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Bardet-bield-300x173.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Bardet-bield-768x442.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/Bardet-bield-18x10.png 18w\" sizes=\"(max-width: 916px) 100vw, 916px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Peque\u00f1o para la edad gestacional\/talla baja.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"994\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/06\/imagen-15.png\" alt=\"\" class=\"wp-image-5765\" style=\"width:905px;height:1313px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-15.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-15-207x300.png 207w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/06\/imagen-15-8x12.png 8w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n<div id=\"zotpress-b908076d74f6d8328aadf57afd20e210\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span 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id=\"zp-ID-5764-332710-FDXK533K\" data-zp-author-date='Wakeling-et-al.-2017-02' data-zp-date-author='2017-02-Wakeling-et-al.' data-zp-date='2017-02' data-zp-year='2017' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Wakeling EL, Brioude F, Lokulo-Sodipe O, O\u2019Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol [Internet]. 2017 Feb [cited 2017 Sept 2];13(2):105\u201324. Available from: <a class='zp-ItemURL' href='http:\/\/www.nature.com\/nrendo\/journal\/v13\/n2\/full\/nrendo.2016.138.html'>http:\/\/www.nature.com\/nrendo\/journal\/v13\/n2\/full\/nrendo.2016.138.html<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n<\/div><\/details>\n<\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":5766,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[2],"tags":[],"class_list":["post-5764","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aspectos-pediatricos","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/5764","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=5764"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/5764\/revisions"}],"predecessor-version":[{"id":7867,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/5764\/revisions\/7867"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/5766"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=5764"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=5764"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=5764"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}