{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T17:31:47Z","timestamp":1762018307915,"version":"build-2065373602"},"reference-count":0,"publisher":"Sociedad Chilena de Pediatria","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Chil Pediatr"],"abstract":"<jats:p>El S\u00edndrome de CHARGE (SCH), es un s\u00edndrome gen\u00e9tico de amplia variabilidad fenot\u00edpica, de herencia autos\u00f3mica dominante, causado por variantes patog\u00e9nicas en el gen CHD7.Objetivo: Describir el amplio espectro fenot\u00edpico de un SCH neonatal, heterocigoto para el gen CDH7 y la utilidad de la secuenciaci\u00f3n en la confirmaci\u00f3n diagn\u00f3stica, considerando los diagn\u00f3sticos diferenciales.Caso Cl\u00ednico: reci\u00e9n nacida prematura de 34 semanas, con antecedentes prenatales de polihidroamnios severo, translucencia nucal aumentada y foco hiperecog\u00e9nico cardiaco, con estudio de TORCH antenatal, que descart\u00f3 infecci\u00f3n cong\u00e9nita. Al nacer se pesquis\u00f3 par\u00e1lisis facial perif\u00e9rica, atresia de coanas, dismorfias m\u00faltiples, cardiopat\u00eda cong\u00e9nita y coloboma retinocoroideo bilateral. Las neuroim\u00e1genes mostraron hipoplasia de c\u00f3clea y de canales semicirculares bilaterales e hipoplasia pontocerebelosa. Los potenciales evocados auditivos mostraron hipoacusia sensorioneural profunda derecha y anacusia izquierda. Evolucion\u00f3 con hipocalcemia y alteraciones en la inmunidad, confirm\u00e1ndose un hipoparatiroidismo e hipoplasia de timo. El cariograma fue normal y la amplificaci\u00f3n de sondas dependiente de ligandos m\u00faltiples (MLPA) excluy\u00f3 microdeleci\u00f3n 22q11.2. La sospecha cl\u00ednica de SCH se confirm\u00f3 con la detecci\u00f3n de una variante patog\u00e9nica en el gen CHD7.Conclusiones: La superposici\u00f3n de caracter\u00edsticas cl\u00ednicas del SCH con otros s\u00edndromes gen\u00e9ticos requiere confirmaci\u00f3n gen\u00e9tica molecular considerando diferencias en evoluci\u00f3n, terapias y riesgos de recurrencia.<\/jats:p>","DOI":"10.32641\/rchped.v90i5.1080","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T18:54:22Z","timestamp":1574276062000},"source":"Crossref","is-referenced-by-count":8,"title":["Espectro fenot\u00edpico de S\u00edndrome de CHARGE neonatal"],"prefix":"10.32641","volume":"90","author":[{"given":"N.","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4238-8969","authenticated-orcid":false,"given":"M.","family":"Hernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JP.","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Mellado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"17639","published-online":{"date-parts":[[2019,10,7]]},"container-title":["Revista Chilena de Pediatr\u00eda"],"original-title":[],"link":[{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/1080\/1298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/1080\/1298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T18:27:59Z","timestamp":1618252079000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/view\/1080"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,7]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019,10,7]]}},"URL":"https:\/\/doi.org\/10.32641\/rchped.v90i5.1080","relation":{},"ISSN":["0370-4106","0370-4106"],"issn-type":[{"type":"electronic","value":"0370-4106"},{"type":"print","value":"0370-4106"}],"subject":[],"published":{"date-parts":[[2019,10,7]]}}}