<?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>1688-0420</journal-id>
<journal-title><![CDATA[Revista Uruguaya de Cardiología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev.Urug.Cardiol.]]></abbrev-journal-title>
<issn>1688-0420</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Cardiología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-04202019000100201</article-id>
<article-id pub-id-type="doi">10.29277/cardio.34.1.14</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Ellis-van Creveld. Reporte de un caso en Ecuador]]></article-title>
<article-title xml:lang="en"><![CDATA[Ellis-van Creveld Syndrome. A case report in Ecuador]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Ellis-Van Creveld. Relato de um caso no Equador]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valdivieso]]></surname>
<given-names><![CDATA[Carlos Guamán]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rosero]]></surname>
<given-names><![CDATA[Pablo Mantilla]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guachamboza]]></surname>
<given-names><![CDATA[Carlos Céspedes]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pinto]]></surname>
<given-names><![CDATA[Carla Álvarez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rosero]]></surname>
<given-names><![CDATA[Luis Sánchez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la República Facultad de Medicina Centro Cardiovascular Universitario, Hospital de Clínicas]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Central de Ecuador  ]]></institution>
<addr-line><![CDATA[Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Práctica privada  ]]></institution>
<addr-line><![CDATA[Quito ]]></addr-line>
<country>Ecuador.</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital de Especialidades Eugenio Espejo  ]]></institution>
<addr-line><![CDATA[Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<volume>34</volume>
<numero>1</numero>
<fpage>201</fpage>
<lpage>210</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-04202019000100201&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-04202019000100201&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-04202019000100201&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El síndrome de Ellis-van Creveld es una rara anormalidad genética autosómica recesiva causada por mutaciones en el cromosoma 4p16. Presenta una tétrada típica: condrodistrofia, polidactilia postaxial, displasia ectodérmica y cardiopatía congénita, siendo esta última la principal determinante de la mortalidad. Desde que fue descrito en 1940, se han registrado 150 casos en la literatura científica; en Sudamérica son pocos los casos registrados y en Ecuador no se encontró ningún caso publicado. Se presenta un paciente asintomático de 20 años que acude a un control médico de rutina donde se evidencia un soplo cardíaco.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Ellis-van Creveld syndrome is a rare autosomal recessive disorder. It is caused by a mutation in 4p16 chromosome. It is characterized by a classical tetrad: chondrodystrophy, postaxial polydactyly, ectodermal dysplasia, and congenital heart defect. The congenital heart defect is the main determinant of mortality. Ellis-van Creveld syndrome was described in 1940; it has been registered 150 case reports. There are few reports in South America. In Ecuador, it wasn&#8217;t found case reports. A 20 years old asymptomatic patient is presented, who goes to routine health care and is found to have a heart murmur.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A síndrome de Ellis-van Creveld é uma esquisita doença autossômica recessiva. É causada por uma mutação no cromossomo 4p16. É caracterizada por quatro sinais típicas: condrodistrofia, polidactilia pós-axial, displasia ectodérmica e cardiopatia congênita. O defeito cardíaco congênito é o principal determinante da mortalidade. Desde que foi descrito em 1940 tenham sido registrados 150 relatos de caso. Na America do Sul existem poucos relatos, e no Equador não se encontrou nenhum publicado. É apresentado um paciente assintomático de 20 anos que vai para o controle médico de rotina, onde é encontrada uma bulha cardíaca.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Ellis-van Creveld]]></kwd>
<kwd lng="es"><![CDATA[Cardiopatías congénitas]]></kwd>
<kwd lng="es"><![CDATA[Displasia ectodérmica]]></kwd>
<kwd lng="es"><![CDATA[Polidactilia]]></kwd>
<kwd lng="en"><![CDATA[Ellis-van Creveld Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Heart Defects]]></kwd>
<kwd lng="en"><![CDATA[Congenital]]></kwd>
<kwd lng="en"><![CDATA[Ectodermal Dysplasia]]></kwd>
<kwd lng="en"><![CDATA[Polydactyly]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Ellis - Van Creveld]]></kwd>
<kwd lng="pt"><![CDATA[Cardiopatias Congênitas]]></kwd>
<kwd lng="pt"><![CDATA[Displasia Ectodérmica]]></kwd>
<kwd lng="pt"><![CDATA[Polidactilia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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