<?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>1652-6776</journal-id>
<journal-title><![CDATA[Cuadernos Hospital de Clínicas]]></journal-title>
<abbrev-journal-title><![CDATA[Cuad. - Hosp. Clín.]]></abbrev-journal-title>
<issn>1652-6776</issn>
<publisher>
<publisher-name><![CDATA[Universidad Mayor de San Andrés, Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1652-67762024000100049</article-id>
<article-id pub-id-type="doi">10.53287/eeho8573pq81c</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Robinow autosómico recesivo en una familia con dos hermanos afectados. Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Autosomal recessive Robinow syndrome in a family with two affected siblings: a case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ximena]]></surname>
<given-names><![CDATA[Aguilar-Mercado]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Germán]]></surname>
<given-names><![CDATA[Melean-Gumiel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rafael]]></surname>
<given-names><![CDATA[Montaño-Arrieta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valeria]]></surname>
<given-names><![CDATA[Aillón-López]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Adela]]></surname>
<given-names><![CDATA[Terán-Zúñiga]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,aff1  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,aff2  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,aff3  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<volume>65</volume>
<numero>1</numero>
<fpage>49</fpage>
<lpage>54</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S1652-67762024000100049&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S1652-67762024000100049&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S1652-67762024000100049&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de Robinow es una enfermedad rara, de origen genético causada por mutaciones en diversos genes de la vía de señalización Wnt, entre ellos: WNT5A, DVL1, DVL3, ROR2, NXN y FZ2. El síndrome se caracteriza por anomalías craneofaciales, malformaciones en extremidades y alteraciones genitourinarias. Se presentan dos hermanos nacidos de padres sanos con manifestaciones típicas del Síndrome de Robinow, el estudio de la genealogía sugiere un mecanismo de herencia autosómico recesivo. El síndrome de Robinow ha sido reportado en muy pocas ocasiones en la literatura científica internacional, por este motivo, reportes como el del presente artículo son un aporte importante al conocimiento de las características clínicas y el mecanismo de transmisión del síndrome. Nuestro artículo se constituye en el primer reporte boliviano del síndrome y uno de los pocos que reporta dos hermanos afectados.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Robinow syndrome is a rare genetic disorder caused by mutations in various genes within the Wnt signaling pathway, including WNT5A, DVL1, DVL3, ROR2, NXN, and FZ2. The syndrome is characterized by craniofacial anomalies, limb malformations, and genitourinary disorders. Two siblings born to healthy parents present typical manifestations of Robinow syndrome. Genealogical analysis suggests an autosomal recessive inheritance mechanism. Although Robinow syndrome has been rarely reported in the international scientific literature, articles like the present contribute significantly to understanding the clinical features and transmission mechanism of the syndrome. Our article represents the first Bolivian report on this syndrome and is one of the few that describes two affected siblings.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Robinow]]></kwd>
<kwd lng="es"><![CDATA[vía de señalización Wnt]]></kwd>
<kwd lng="es"><![CDATA[anomalías craneofaciales]]></kwd>
<kwd lng="es"><![CDATA[malformaciones en extremidades]]></kwd>
<kwd lng="es"><![CDATA[alteraciones genitourinarias]]></kwd>
<kwd lng="en"><![CDATA[Robinow syndrome]]></kwd>
<kwd lng="en"><![CDATA[Wnt signaling pathway]]></kwd>
<kwd lng="en"><![CDATA[craniofacial anomalies]]></kwd>
<kwd lng="en"><![CDATA[limb malformations]]></kwd>
<kwd lng="en"><![CDATA[genitourinary alterations]]></kwd>
</kwd-group>
</article-meta>
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