<?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>0122-0667</journal-id>
<journal-title><![CDATA[Revista Médica de Risaralda]]></journal-title>
<abbrev-journal-title><![CDATA[Revista médica Risaralda]]></abbrev-journal-title>
<issn>0122-0667</issn>
<publisher>
<publisher-name><![CDATA[Universidad Tecnológica de Pereira]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0122-06672020000200160</article-id>
<article-id pub-id-type="doi">10.22517/25395203.21321</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Ellis Van Creveld]]></article-title>
<article-title xml:lang="en"><![CDATA[Ellis Van Creveld syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Erazo-Narváez]]></surname>
<given-names><![CDATA[Andrés Felipe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Muñoz-Vidal]]></surname>
<given-names><![CDATA[Juan Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta-Aragón]]></surname>
<given-names><![CDATA[María Amparo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Cauca Facultad de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Cauca Facultad de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Cauca Departamento de Pediatría ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<volume>26</volume>
<numero>2</numero>
<fpage>160</fpage>
<lpage>165</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0122-06672020000200160&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0122-06672020000200160&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0122-06672020000200160&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 un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Ellis-Van Creveld]]></kwd>
<kwd lng="es"><![CDATA[polidactilia]]></kwd>
<kwd lng="es"><![CDATA[enanismo]]></kwd>
<kwd lng="es"><![CDATA[cardiopatías congénitas]]></kwd>
<kwd lng="es"><![CDATA[Genu Valgum]]></kwd>
<kwd lng="es"><![CDATA[Diastema]]></kwd>
<kwd lng="en"><![CDATA[Ellis Van Creveld Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Polydactyly]]></kwd>
<kwd lng="en"><![CDATA[Dwarfism]]></kwd>
<kwd lng="en"><![CDATA[Heart Congenital Defects]]></kwd>
<kwd lng="en"><![CDATA[Genu Valgum]]></kwd>
<kwd lng="en"><![CDATA[Diastema]]></kwd>
</kwd-group>
</article-meta>
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