<?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>2221-2434</journal-id>
<journal-title><![CDATA[Revista Finlay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Finlay]]></abbrev-journal-title>
<issn>2221-2434</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos. Centro Provincial de información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2221-24342022000400491</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Baller-Gerold. A propósito de un caso clínico y revisión de la literatura]]></article-title>
<article-title xml:lang="en"><![CDATA[Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Piña Rodríguez]]></surname>
<given-names><![CDATA[Anolys Narciso]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Intento García]]></surname>
<given-names><![CDATA[Osiris]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montes Amador]]></surname>
<given-names><![CDATA[Sady]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital General Universitario Dr. Gustavo Aldereguía Lima  ]]></institution>
<addr-line><![CDATA[Cienfuegos ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>12</volume>
<numero>4</numero>
<fpage>491</fpage>
<lpage>495</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2221-24342022000400491&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2221-24342022000400491&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2221-24342022000400491&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El síndrome de Baller-Gerold es secundario a mutaciones en el gen RECQL4 (8q24.3). Este gen pertenece a la familia de las RecQhelicasas y está implicado en otras enfermedades de predisposición al cáncer. El diagnóstico se basa en criterios clínicos y debido al elevado número de diagnósticos diferenciales, encontrar una mutación en el gen puede ayudar a precisar el espectro diagnóstico, el consejo genético y su tratamiento. Se han descrito en la literatura alrededor de 30 casos, aunque se sabe que se ha presentado en menos de 200 000 personas en el mundo, por lo que se considera, una condición clínica rara. Se presenta el caso de una paciente que desde su nacimiento se constataron múltiples malformaciones músculo-esqueléticas: aplasia radial, pulgares aplásicos, malformaciones de la parrilla costal, clinodactilia de todos los dedos de miembros superiores, antebrazos hipoplásicos, clinodactilia del miembro inferior izquierdo. Se le realizó alimentación parenteral por varios días, fue imposible establecer vía oral adecuada por ausencia y/o incoordinación de los reflejos de succión-deglución como expresión de sus malformaciones a nivel de sistema nervioso central. Se presenta el caso por su baja incidencia y prevalencia por lo que es considerada una enfermedad rara.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in the gene can help to specify the diagnostic spectrum, genetic counseling and treatment. Around 30 cases have been described in the literature, although it is known that it has occurred in less than 200,000 people in the world, being considered a rare clinical condition. We present the case of a newborn, who at birth was found to have multiple musculoskeletal malformations: radial aplasia, aplastic thumbs, malformations of the rib cage, clinodactyly of all the fingers of the upper limbs, hypoplastic forearms, clinodactyly of the left lower limb. She was given parenteral feeding for several days, it was impossible to establish an adequate oral route due to the absence and/or incoordination of the sucking-swallowing reflexes as an expression of her malformations at the central nervous system level. The case is presented due to its low incidence and prevalence, which is why it is considered a rare disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[mutaciones anuladoras]]></kwd>
<kwd lng="es"><![CDATA[sistema nervioso central]]></kwd>
<kwd lng="es"><![CDATA[reporte de casos]]></kwd>
<kwd lng="en"><![CDATA[knockout mutations]]></kwd>
<kwd lng="en"><![CDATA[central nervous system]]></kwd>
<kwd lng="en"><![CDATA[case report]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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