{"id":4169,"date":"2022-12-15T18:19:03","date_gmt":"2022-12-15T18:19:03","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=4169"},"modified":"2023-12-29T18:32:26","modified_gmt":"2023-12-29T18:32:26","slug":"facies-tosca","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/facies-tosca\/","title":{"rendered":"Facies tosca."},"content":{"rendered":"\n

Existe una multitud de enfermedades metab\u00f3licas caracterizadas por la presencia de facies tosca<\/a>. La mayor\u00eda de ellas son enfermedades por ac\u00famulo y presentan un fenotipo progresivo que va haci\u00e9ndose m\u00e1s evidente con la edad, por lo que el diagn\u00f3stico temprano es dificultoso. La mejor estrategia es implementar un screening dirigido<\/a>, utilizando los GAG de forma sistem\u00e1tica aunque la sospecha sea baja. <\/p>\n\n\n

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Galimberti C, Madeo A, Di Rocco M, Fiumara A. Mucopolysaccharidoses: early diagnostic signs in infants and children. Italian Journal of Pediatrics [Internet]. 2018 Nov 16 [cited 2023 Jan 22];44(2):133. Available from: https:\/\/doi.org\/10.1186\/s13052-018-0550-5<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n\n\n\n
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%20or%20prominent%2C%20thick%20eyebrows%20were%20identified%20as%20the%20most%20important%20MPS%20III%20early%20signs.%20The%20list%20of%20eight%20early%20MPS%20III%20signs%20and%20symptoms%20is%20the%20first%20step%20towards%20the%20development%20of%20a%20clinical%20algorithm%20aiming%20to%20identify%20neonates%20and%20infants%20with%20MPS%20III%20before%20the%20onset%20of%20neurocognitive%20damage%2C%20ultimately%20shortening%20the%20diagnostic%20journey%20of%20MPS%20III%20patients.%22%2C%22date%22%3A%222020%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1590%5C%2F2326-4594-jiems-2020-0002%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.scielo.br%5C%2Fscielo.php%3Fscript%3Dsci_arttext%26pid%3DS2326-45942020000100401%26tlng%3Den%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%222326-4594%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22WSXVZUQX%22%5D%2C%22dateModified%22%3A%222025-09-27T22%3A44%3A46Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t
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Escolar M, Bradshaw J, Byers VT, Giugliani R, Golightly L, Louren\u00e7o CM, et al. Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. J inborn errors metab screen [Internet]. 2020 [cited 2023 Jan 22];8:e20200002. Available from: http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n\n\n\n
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MPS I (S\u00edndrome de Hurler-Scheie).<\/div><\/summary>
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1.<\/div>
home [Internet]. [cited 2023 Jan 22]. MPS I Disease Spectrum | Patients. Available from: https:\/\/www.mps1disease.com\/patients\/about\/disease-spectrum<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n
MPS II (S\u00edndrome de Hunter). <\/div><\/summary>
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Atlas del s\u00edndrome de Hunter. <\/a><\/p>\n\n\n\n