{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,28]],"date-time":"2024-04-28T19:14:10Z","timestamp":1714331650729},"reference-count":36,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1981,6]]},"abstract":"<jats:p>A s\u00edndrome de Leopard \u00e9 uma condi\u00e7\u00e3o autosoma dominante de vari\u00e1vel express\u00e3o fenot\u00edpica. Uma minoria apenas dos pacientes apresenta todos os componentes da s\u00edndrome, ou seja, lentigenes m\u00faltiplas (L), altera\u00e7\u00f5es eletrocardiogr\u00e1ficos (E), hipertelorismo ocular (O), estenose pulmonar (P), anormalidades genitais (A), retardo de crescimento (R), e surdez neurosensorial (D). Descrevemos o caso de uma crian\u00e7a com todos os componentes da s\u00edndrome al\u00e9m de outras anomalias n\u00e3o descritas anteriormente, tais como macroglossia, altera\u00e7\u00f5es dent\u00e1rias, megacolon, ectopia anal e hipertrofia do clitoris, impress\u00e3o basilar e platibasia. A presen\u00e7a de altera\u00e7\u00f5es dent\u00e1rias e megacolon, representando envolvimento das papilas dent\u00e1rias e de plexo mioent\u00e9rico, derivados da crista neural, constitui nova evid\u00eancia que favorece a hip\u00f3tese de ser a s\u00edndrome de Leopard resultante de anomalia dos elementos da crista neural.<\/jats:p>","DOI":"10.1590\/s0004-282x1981000200010","type":"journal-article","created":{"date-parts":[[2012,8,25]],"date-time":"2012-08-25T08:37:42Z","timestamp":1345883862000},"page":"214-222","source":"Crossref","is-referenced-by-count":3,"title":["Syndrome de Leopard, dist\u00farbio da crista neural: relato de um caso"],"prefix":"10.1590","volume":"39","author":[{"given":"Marco Aurelio Lana","family":"Peixoto","sequence":"first","affiliation":[{"name":"Federal University of Minas Gerais; Medical School and Instituto Hilton Rocha, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco O. L.","family":"Perpetuo","sequence":"additional","affiliation":[{"name":"Federal University of Minas Gerais; Medical School and Instituto Hilton Rocha, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roscicler P. De","family":"Souza","sequence":"additional","affiliation":[{"name":"Federal University of Minas Gerais; Medical School and Instituto Hilton Rocha, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dairton","family":"Miranda","sequence":"additional","affiliation":[{"name":"Federal University of Minas Gerais; Medical School and Instituto Hilton Rocha, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciro G.","family":"Loures","sequence":"additional","affiliation":[{"name":"Federal University of Minas Gerais; Medical School and Instituto Hilton Rocha, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1365-2133.1948.tb10953.x","article-title":"A case of unilateral lentigenes with mental deficiency","volume":"60","author":"CAPPON D.","year":"1948","journal-title":"Brit. J. 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