<?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>2306-4102</journal-id>
<journal-title><![CDATA[Acta ortopédica mexicana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta ortop. mex]]></abbrev-journal-title>
<issn>2306-4102</issn>
<publisher>
<publisher-name><![CDATA[Colegio Mexicano de Ortopedia y Traumatología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2306-41022018000200108</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Estudio clínico y molecular en una familia con osteocondromatosis múltiple]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical and molecular study in a family with multiple osteochondromatosis]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Stock]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Avendaño]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cozar]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Balcells]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Grinberg]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Facultad de Medicina Departamento de Puericultura y Pediatría]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Autónomo Hospital Universitario de Los Andes Unidad de Oncología Pediátrica ]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universitat de Barcelona Facultad de Biología Departamento de Genética]]></institution>
<addr-line><![CDATA[Barcelona ]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2018</year>
</pub-date>
<volume>32</volume>
<numero>2</numero>
<fpage>108</fpage>
<lpage>111</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2306-41022018000200108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2306-41022018000200108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2306-41022018000200108&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Se presentan dos casos de una familia con diagnóstico de osteocondromatosis múltiple, el cual fue confirmado por estudio molecular con mutación sin sentido en heterocigosis c.1219C&gt;T, (p.Gln407Stop) en el gen EXT1. En el primer caso, en un paciente se presentó deformidad de Madelung como hallazgo infrecuente y en el otro caso, condrosarcoma como complicación temida, resaltando la variación intrafamiliar, por lo que se recomienda la evaluación individual e interdisciplinaria. Además, ante una entidad genética debe brindarse el adecuado y oportuno asesoramiento genético familiar a todos sus integrantes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C&gt;T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Osteocondromatosis múltiple]]></kwd>
<kwd lng="es"><![CDATA[clínica]]></kwd>
<kwd lng="es"><![CDATA[EXT1]]></kwd>
<kwd lng="es"><![CDATA[asesoramiento genético]]></kwd>
<kwd lng="en"><![CDATA[Multiple osteochondromatosis]]></kwd>
<kwd lng="en"><![CDATA[clinical]]></kwd>
<kwd lng="en"><![CDATA[EXT1]]></kwd>
<kwd lng="en"><![CDATA[genetic counseling]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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