<?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>0035-0052</journal-id>
<journal-title><![CDATA[Revista mexicana de pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. pediatr.]]></abbrev-journal-title>
<issn>0035-0052</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Pediatría A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0035-00522022000200081</article-id>
<article-id pub-id-type="doi">10.35366/107503</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Joubert asociado a variantes patogénicas en el gen TMEM67]]></article-title>
<article-title xml:lang="en"><![CDATA[Joubert syndrome associated with pathogenic variants in the TMEM67 gene]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-García]]></surname>
<given-names><![CDATA[Jesús Javier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Corvera-Villaseñor]]></surname>
<given-names><![CDATA[Sonia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dueñas-Arias]]></surname>
<given-names><![CDATA[Jesús Ernesto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vega-Castro]]></surname>
<given-names><![CDATA[Rossela de Jesús]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Beltrán-Rivas]]></surname>
<given-names><![CDATA[Rubén]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Pediátrico de Sinaloa &#8220;Dr. Rigoberto Aguilar Pico&#8221; Unidad de Terapia Intensiva Pediátrica ]]></institution>
<addr-line><![CDATA[Culiacán Sinaloa]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Pediátrico de Sinaloa &#8220;Dr. Rigoberto Aguilar Pico&#8221; Departamento de Oftalmología ]]></institution>
<addr-line><![CDATA[Culiacán Sinaloa]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Pediátrico de Sinaloa &#8220;Dr. Rigoberto Aguilar Pico&#8221; Departamento de Genética ]]></institution>
<addr-line><![CDATA[Culiacán Sinaloa]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Pediátrico de Sinaloa &#8220;Dr. Rigoberto Aguilar Pico&#8221; Departamento de Neurología ]]></institution>
<addr-line><![CDATA[Culiacán Sinaloa]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<volume>89</volume>
<numero>2</numero>
<fpage>81</fpage>
<lpage>85</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522022000200081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522022000200081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522022000200081&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  el síndrome de Joubert (SJ) es una ciliopatía congénita autosómica recesiva que se ha asociado a mutación en el gen TMEM67. El SJ se caracteriza por retraso en desarrollo psicomotor, alteraciones oculares así como manifestaciones a nivel renal, esquelético y hepático. Por resonancia magnética (RM) se identifica la alteración patognomónica que es una malformación en cerebelo y en tronco encefálico, con imagen característica &#8220;signo del diente molar&#8221; (SDM).  Objetivo:  describir el cuadro clínico de un paciente con SJ en quien se identificó variantes en el gen TMEM67.  Caso clínico:  varón de tres años con retraso en el desarrollo psicomotor, hipotonía, ambliopía isometrópica, ambliopía estrábica y nistagmo vertical hacia abajo. En la RM se observó el SDM, ya que los pedúnculos cerebelosos superiores se encontraron alargados. Desde el punto de vista genético, mediante secuenciación del exoma completo, se encontraron dos variantes en estado heterocigoto compuesto del gen TMEM67.  Conclusiones:  en niños con retraso en el desarrollo psicomotor y nistagmos deben someterse a una exploración exhaustiva ocular, de neuroimagen y genético a fin de determinar si se trata de SJ.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  Joubert syndrome (JS) is an autosomal recessive congenital ciliopathy, which has been associated with a mutation in the TMEM67 gene. JS is characterized by delayed psychomotor development, ocular alterations, as well as renal, skeletal, and hepatic manifestations. Magnetic resonance imaging (MRI) identifies the pathognomonic alteration, which is a malformation in the cerebellum and brainstem, with a characteristic image of the &#8220;molar tooth sign&#8221; (MTS).  Objective:  to describe the clinical picture of a pediatric SJ patient in whom variants in the TMEM67 gene were detected.  Case report:  three-year-old male with delayed psychomotor development, hypotonia, isometropic amblyopia, strabismic amblyopia, and downward vertical nystagmus. In the MRI, the MTS was observed since the superior cerebellar peduncles were found to be elongated. By genetics, through whole exome sequencing, two variants in the heterozygous state of the TMEM67 gene were found.  Conclusions:  children with delayed psychomotor development and nystagmus should undergo a comprehensive ocular, neuroimaging, and genetic examination to identify the diagnosis of JS.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Joubert]]></kwd>
<kwd lng="es"><![CDATA[imagen diente molar]]></kwd>
<kwd lng="es"><![CDATA[nistagmos]]></kwd>
<kwd lng="es"><![CDATA[estrabismo]]></kwd>
<kwd lng="es"><![CDATA[gen TMEM67]]></kwd>
<kwd lng="en"><![CDATA[Joubert syndrome]]></kwd>
<kwd lng="en"><![CDATA[molar tooth image]]></kwd>
<kwd lng="en"><![CDATA[nystagmus]]></kwd>
<kwd lng="en"><![CDATA[strabismus]]></kwd>
<kwd lng="en"><![CDATA[TMEM67 gene]]></kwd>
</kwd-group>
</article-meta>
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