2018
DOI: 10.5433/1679-0367.2017v38n1suplp238
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Síndrome de Patau: Relato de um caso com trissomia completa do cromossomo 13

Abstract: A Síndrome de Patau é uma anomalia cromossômica causada pela presença de uma cópia extra do cromossomo 13 com prevalência de 1:20000 nascidos vivos. Apresenta malformações congênitas, incluindo comprometimento do sistema nervoso central, cardíaco, circulatório e urogenital, além de defeitos estruturais faciais e déficit intelectual. O tempo médio de sobrevida é de 7-10 dias, sendo complicações pulmonares a causa mais comum de morte. Dos pacientes nascidos vivos, 86% a 91% não sobrevivem além do primeiro ano de… Show more

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Cited by 2 publications
(3 citation statements)
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“…Já os romanos tinham leis para eliminá-los. Na Idade Média, na Europa Medieval, enquanto alguns associavam pessoas com deficiência à bruxaria, outros as consideravam seres angelicais e sagrados (PIERCE, 2016;SPOLADORI, 2018).…”
Section: Bases Históricas Da Síndrome De Downunclassified
“…Já os romanos tinham leis para eliminá-los. Na Idade Média, na Europa Medieval, enquanto alguns associavam pessoas com deficiência à bruxaria, outros as consideravam seres angelicais e sagrados (PIERCE, 2016;SPOLADORI, 2018).…”
Section: Bases Históricas Da Síndrome De Downunclassified
“…This syndrome can be diagnosed at birth or during prenatal care, and the main findings are microphthalmia, polydactyly and cleft palate. 1 This pathology is estimated at approximately 1:20,000 live births, with a life expectancy of 7 to 10 days. Most cases have early lethality as a result of abortions prior to diagnosis.…”
Section: Introductionmentioning
confidence: 99%
“…In addition to these alterations, common signs of Patau syndrome are heart defects, kidney disorders, microcephaly and defects in the genesis of auditory structures, such as deafness and low implantation of the ears. 1 Holoprosencephaly (HPE), in turn, is a defect in the cleavage of the forebrain, occurring between the 18th and 28th week of gestation, caused by failures in the action of signaling molecules such as Hedgehog (Hh) protein precursor, fibroblast growth factor (FGF), transforming growth factor-beta (TGFß) and WnT signaling pathway that regulate the transcription of genes responsible for neural plate differentiation. 2 Facial malformations of varying degrees, deficiency in hormone production (mainly antidiuretic hormone), dysfunctions and problems in maintaining homeostasis (regulating temperature, controlling heart and respiratory rate) can also occur.…”
Section: Introductionmentioning
confidence: 99%