<?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>S2306-41022021000600567</article-id>
<article-id pub-id-type="doi">10.35366/105712</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mutación c.3037G&gt;A en el gen FBN1 asociado a síndrome de Marfan variante neonatal]]></article-title>
<article-title xml:lang="en"><![CDATA[Mutation c.3037G&gt;A in the FBN1 gene associated with neonatal Marfan syndrome variant]]></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[Capolino]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Magliozzi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Novelli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galeotti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Callea]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Departamento de Puericultura y Pediatría Unidad de Genética Médica]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Bambino Gesù Children&#8217;s Hospital Medical Genetics Unit ]]></institution>
<addr-line><![CDATA[Rome ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Bambino Gesù Children&#8217;s Hospital Laboratory of Medical Genetics ]]></institution>
<addr-line><![CDATA[Rome ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Bambino Gesù Children&#8217;s Hospital Unit of Dentistry ]]></institution>
<addr-line><![CDATA[Rome ]]></addr-line>
<country>Italy</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>35</volume>
<numero>6</numero>
<fpage>567</fpage>
<lpage>571</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2306-41022021000600567&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2306-41022021000600567&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2306-41022021000600567&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El síndrome de Marfan ([SM], OMIM 154700) es un trastorno del tejido conectivo que exhibe un patrón de herencia autosómico dominante, cuyas características clínicas pueden afectar de forma variable múltiples sistemas u órganos. Es causado por mutaciones en el gen FBN1 (OMIM 134797) localizado en 15q21.1. El SM neonatal es una variedad infrecuente de la entidad asociado con mutaciones en el cambio de sentido entre los exones 23-33 y mutaciones truncadas, exhibe un fenotipo más severo y alto porcentaje de mortalidad en los primeros años de vida. Se presenta el caso de adolescente masculino con SM neonatal y mutaciones en el cambio de sentido (c.3037G&gt;A; p.Gly225Arg) en el exón 24 del gen FBN1. Ante estos hallazgos se estudió la variación fenotípica interfamiliar, la evaluación médica interdisciplinaria precoz necesaria para el manejo de las posibles complicaciones, así como el oportuno asesoramiento genético familiar.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: Marfan syndrome ([MS], OMIM 154700) is a connective tissue disorder that exhibits an autosomal dominant pattern of inheritance, whose clinical characteristics can affect multiple systems or organs in a variable way. It is caused by mutations in the FBN1 gene (OMIM 134797) located at 15q21.1. Neonatal MS is an uncommon variety of the entity associated with missense mutation between exons 23-33 and truncating mutations, exhibits a more severe phenotype and high percentage of mortality in the first years of life. The case of male adolescent with neonatal MS and missense mutation (c.3037G&gt; A; p.Gly225Arg) in exon 24 of the FBN1 gene is presented. Given these findings, interfamilial phenotype variation, the early interdisciplinary medical evaluation necessary for the management of possible complications, as well as the appropriate family genetic counseling were studied.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Marfan]]></kwd>
<kwd lng="es"><![CDATA[neonatal]]></kwd>
<kwd lng="es"><![CDATA[FBN1]]></kwd>
<kwd lng="es"><![CDATA[clínica]]></kwd>
<kwd lng="es"><![CDATA[asesoramiento genético]]></kwd>
<kwd lng="en"><![CDATA[Marfan syndrome]]></kwd>
<kwd lng="en"><![CDATA[neonatal]]></kwd>
<kwd lng="en"><![CDATA[FBN1]]></kwd>
<kwd lng="en"><![CDATA[clinic]]></kwd>
<kwd lng="en"><![CDATA[genetic counseling]]></kwd>
</kwd-group>
</article-meta>
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