<?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>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322021000200015</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Joubert]]></article-title>
<article-title xml:lang="en"><![CDATA[Joubert syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Marquina Cintora]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez Suárez]]></surname>
<given-names><![CDATA[Ariadna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Herrero Álvarez]]></surname>
<given-names><![CDATA[Myriam]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carabaño Aguado]]></surname>
<given-names><![CDATA[Iván]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aguirre Pascual]]></surname>
<given-names><![CDATA[Elisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salcedo Lobato]]></surname>
<given-names><![CDATA[Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medina Benítez]]></surname>
<given-names><![CDATA[Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario de Getafe Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Getafe Madrid]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Rey Juan Carlos Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Móstoles Madrid]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Pediatría Sección de Gastroenterología, Hepatología y Nutrición Pediátrica]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario 12 de Octubre Servicio de Radiodiagnóstico Sección de Radiología Infantil]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<volume>23</volume>
<numero>90</numero>
<fpage>191</fpage>
<lpage>194</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322021000200015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322021000200015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322021000200015&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[ Resumen El síndrome de Joubert es una enfermedad multisistémica poco frecuente. Se caracteriza por una malformación congénita del tronco cerebral e hipoplasia del vermis cerebeloso. Estas alteraciones provocan, entre otros, problemas respiratorios, hipotonía y retraso del desarrollo psicomotor. Puede asociar alteraciones a nivel renal, hepático u ocular, entre otros. No existe un tratamiento curativo de la enfermedad; por ello es importante un diagnóstico precoz, para ofrecer un seguimiento multidisciplinar y así poder mejorar el pronóstico y la calidad de vida de los pacientes y sus familias.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Abstract Joubert syndrome is a rare neurological disorder. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem. These abnormalities cause signs and symptoms that include abnormal breathing patterns, hypotonia and development delay. It may associate kidney, liver or eye abnormalities. Treatment is supportive and depends on the symptoms in each person. This is why early diagnosis is so important, to offer a multidisciplinary strategy for improving the prognosis and quality of life.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Cerebelo]]></kwd>
<kwd lng="es"><![CDATA[Elastografía]]></kwd>
<kwd lng="es"><![CDATA[Fibrosis quística]]></kwd>
<kwd lng="es"><![CDATA[Joubert]]></kwd>
<kwd lng="en"><![CDATA[Cerebellum]]></kwd>
<kwd lng="en"><![CDATA[Cystic fibrosis]]></kwd>
<kwd lng="en"><![CDATA[Elastography]]></kwd>
<kwd lng="en"><![CDATA[Joubert]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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</back>
</article>
