<?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>S1652-67762024000200053</article-id>
<article-id pub-id-type="doi">10.53287/bzdi6432vu99i</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Manifestaciones clínicas en el síndrome de Noonan. Reporte de 4 casos]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical manifestations in Noonan syndrome. Report of 4 cases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aguilar-Mercado]]></surname>
<given-names><![CDATA[Ximena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aillón-López]]></surname>
<given-names><![CDATA[Valeria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Meleán]]></surname>
<given-names><![CDATA[Germán]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montaño-Arrieta]]></surname>
<given-names><![CDATA[Rafael]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos-Condori]]></surname>
<given-names><![CDATA[Wilson]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quispe-Quajera]]></surname>
<given-names><![CDATA[Daniela K.]]></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>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>65</volume>
<numero>2</numero>
<fpage>53</fpage>
<lpage>57</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S1652-67762024000200053&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S1652-67762024000200053&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S1652-67762024000200053&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de Noonan se considera una enfermedad genética caracterizada por mutaciones en uno de los genes de la vía de señalización RAS/MAPK. La incidencia del síndrome de Noonan oscila entre 1:1000 y 1:2500 nacidos vivos. Clínicamente, los criterios de Van der Burgt permiten sospechar el síndrome, entre los más importantes tenemos antecedentes de familiares diagnosticados, rasgos faciales distintivos, talla baja, malformaciones cardíacas congénitas y malformaciones torácicas.  Casos. En este artículo, presentamos cuatro pacientes diagnosticados clínicamente de síndrome de Noonan y los comparamos con otros reportes de casos descritos en la literatura.  Discusión. En nuestra serie todos los pacientes representan casos de novo y demuestran la gran varibilidad clinica que caracteriza al syndrome.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Noonan syndrome is a genetic condition characterized by mutations in one of the RAS/MAPK signaling pathway genes. The incidence of NS is estimated in 1:1000 to 1:2500 live births. Clinically, the Van der Burgt criteria allow us to suspect the syndrome, these criteria includes: family history of the condition, distinctive facial features, short stature, congenital heart malformations, and thoracic malformations.  Case reports. In this article, we present four patients clinically diagnosed with Noonan and we compare them with other reports in the literature.  Discussion . In our series, all patients represent de novo cases and showing great clinical variability.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Noonan]]></kwd>
<kwd lng="es"><![CDATA[criterios de Van der Burgt]]></kwd>
<kwd lng="es"><![CDATA[talla baja sindrómica]]></kwd>
<kwd lng="es"><![CDATA[cardiopatía congénita]]></kwd>
<kwd lng="es"><![CDATA[manchas café con leche]]></kwd>
<kwd lng="es"><![CDATA[RAS/MAPK]]></kwd>
<kwd lng="en"><![CDATA[Noonan syndrome]]></kwd>
<kwd lng="en"><![CDATA[Van der Burgt criteria]]></kwd>
<kwd lng="en"><![CDATA[syndromic short stature]]></kwd>
<kwd lng="en"><![CDATA[congenital heart disease]]></kwd>
<kwd lng="en"><![CDATA[café au lait spots]]></kwd>
<kwd lng="en"><![CDATA[RAS/MAPK]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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