<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000101207</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.1.7</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Caracterización de recién nacidos con síndrome de Down. Experiencia de cuatro años en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell, Montevideo. Uruguay]]></article-title>
<article-title xml:lang="en"><![CDATA[Characterization of newborns with Down syndrome. 4-year experience at the Pereira Rossell Hospital&#8217;s Neonatology Department, Montevideo, Uruguay]]></article-title>
<article-title xml:lang="pt"><![CDATA[Caracterização de recém-nascidos com síndrome de Down. Experiência de 4 anos no serviço de neonatologia do Centro Hospitalar Pereira Rossell, Montevidéu, Uruguai]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Vanina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Piquerez]]></surname>
<given-names><![CDATA[Camila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dendi]]></surname>
<given-names><![CDATA[Álvaro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sobrero]]></surname>
<given-names><![CDATA[Helena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moraes]]></surname>
<given-names><![CDATA[Mario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,CHPR Depto. Neonatología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000101207&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000101207&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000101207&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  la trisomía 21 o síndrome de Down (SD) es la alteración cromosómica más frecuente, con una incidencia general de 1 en 600 a 800 recién nacidos vivos. Su diagnóstico es de sospecha clínica y confirmación citogenética. Las cardiopatías congénitas y las malformaciones gastrointestinales son frecuentes, al igual que las alteraciones hematológicas y desórdenes tiroideos.  Material y método:  estudio descriptivo con el objetivo de detallar las características fenotípicas, genéticas, malformaciones y morbilidades asociadas en los pacientes con trisomía 21 nacidos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell entre el 1 de julio de 2017 y el 1 de julio de 2021.  Resultados:  se incluyeron 56 pacientes, 30/56 fueron de sexo masculino, la media de edad gestacional fue de 37 semanas. Un total de 17 pacientes fue pretérmino. De los pacientes estudiados, 45/56 presentaron trisomía libre en el cariotipo. La hipotonía fue el signo más frecuentemente observado en el examen clínico. El defecto congénito más frecuente, en 34 pacientes, fue la cardiopatía congénita. La más frecuente fue la comunicación interauricular (CIA), seguida de la comunicación interventricular (CIV) en segundo lugar y el canal atrioventricular (canal AV) en tercer lugar. Se encontraron 23 pacientes con alteraciones en el hemograma, siendo la plaquetopenia la alteración más observada. A nueve pacientes se les realizó diagnóstico de hipotiroidismo y la mortalidad global durante la internación fue de 1,78%.  Conclusiones:  se destaca la alta prevalencia de prematurez y de defectos congénitos asociados, siendo la cardiopatía congénita la más frecuente.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Introduction: trisomy 21 or Down Syndrome is the most frequent chromosomal alteration, with a general incidence of 1 in 600 to 800 live newborns. Diagnosis is based on clinical suspicion and cytogenetic confirmation. Congenital heart disease and gastrointestinal malformations are frequent, as are hematological abnormalities and thyroid disorders.  Materials and Methods:  descriptive study with the objective of describing the phenotypic and genetic characteristics, malformations and associated morbidities in patients with trisomy 21 born in the neonatology service of the Pereira Rossell Hospital between July 1, 2017 and July 1, 2021.  Results: 56 patients were included, 30/56 were male, the mean gestational age was 37 weeks. A total of 17 patients were preterm. Of the patients studied, 45/56 presented free trisomy in the karyotype. Hypotonia was the most frequently observed sign on clinical examination. The most common birth defect, in 34 patients, was congenital heart disease. Among them, the most frequent defect was interatrial septal defect (CIA), followed by interventricular septal defect (VSD) and thirdly, atrioventricular canal (AV canal). Twenty-three patients with alterations in the complete blood count were found, being thrombocytopenia the most observed alteration. Nine patients were diagnosed with hypothyroidism and overall mortality during hospitalization was 1.78%.  Conclusions:  we must highlight the high prevalence of prematurity and associated congenital defects, being congenital heart disease the most frequent.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução: a Trissomia do 21 ou Síndrome de Down é a alteração cromossômica mais frequente, com incidência geral de 1 em 600 a 800 recém-nascidos vivos. Seu diagnóstico é baseado na suspeita clínica e na confirmação citogenética. Doenças cardíacas congênitas e malformações gastrointestinais são frequentes, assim como anomalias hematológicas e distúrbios da tireoide.  Materiais e métodos:  estudo descritivo com objetivo de descrever as características fenotípicas e genéticas, malformações e morbidades associadas em pacientes com trissomia dos 21 nascidos no serviço de Neonatologia do Hospital Pereira Rossell entre 1º de julho de 2017 e 1º de julho de 2021.  Resultados:  foram incluídos 56 pacientes, 30/56 do sexo masculino, idade gestacional média de 37 semanas. Um total de 17 pacientes foram prematuros. Dos pacientes estudados, 45/56 apresentavam trissomia livre no cariótipo. A hipotonia foi o sinal mais frequentemente observado no exame clínico. O defeito congênito mais comum, em 34 pacientes, foi a cardiopatia congênita. Dentre eles, o mais frequente foi a comunicação interatrial (CIA), seguida pela comunicação interventricular (CIV) em segundo lugar e pelo canal atrioventricular (canal AV) em terceiro lugar. Foram encontrados 23 pacientes com alterações no hemograma completo, sendo a trombocitopenia a alteração mais observada. Nove pacientes foram diagnosticados com hipotireoidismo e a mortalidade geral durante a internação foi de 1,78%.  Conclusões:  destaca-se a alta prevalência de prematuridade e defeitos congênitos associados, sendo as cardiopatias congênitas as mais frequentes.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Down]]></kwd>
<kwd lng="es"><![CDATA[Recién Nacido]]></kwd>
<kwd lng="es"><![CDATA[Uruguay]]></kwd>
<kwd lng="en"><![CDATA[Down Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Newborn]]></kwd>
<kwd lng="en"><![CDATA[Uruguay]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Down]]></kwd>
<kwd lng="pt"><![CDATA[Recém-Nascido]]></kwd>
<kwd lng="pt"><![CDATA[Uruguai]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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