<?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>1561-3194</journal-id>
<journal-title><![CDATA[Revista de Ciencias Médicas de Pinar del Río]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Ciencias Médicas]]></abbrev-journal-title>
<issn>1561-3194</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-31942022000200024</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome Cockayne, presentación de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Cockayne syndrome: a case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santana-Hernández]]></surname>
<given-names><![CDATA[Elayne Esther]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tamayo-Chang]]></surname>
<given-names><![CDATA[Víctor Jesús]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Anta]]></surname>
<given-names><![CDATA[Ana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Holguín. Hospital Pediátrico Universitario de Holguín. Octavio de la Concepción de la Pedraja ]]></institution>
<addr-line><![CDATA[Holguín ]]></addr-line>
<country>Cuba</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>26</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942022000200024&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942022000200024&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942022000200024&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  el síndrome Cockayne es una enfermedad genética multisistémica de baja frecuencia, caracterizada por disminución del crecimiento postnatal que causa baja talla, reducción del panículo adiposo generalizado con aspecto de envejecimiento prematuro, piel fina que permite apreciar la circulación capilar, con lesiones de fotosensibilidad, disfunción neurológica progresiva con discapacidad intelectual.  Presentación de caso:  se presenta paciente masculino con detención de crecimiento desde los cuatro años, disminución del panículo adiposo más acentuado en las extremidades, con abdomen globuloso con hepatomegalia y arañas vasculares. La piel muy fina con múltiples manchas hiperpigmentadas e hipopigmentadas causada por traumatismo, así como lesiones atróficas y fotosensibles, con cabello delgado despigmentado y quebradizo. Paciente atendido por un equipo multidisciplinario, que después de varios estudios, se realiza un exhaustivo examen físico dismorfológico, a través del método clínico que permitió la delineación del fenotipo lográndose el diagnóstico definitivo.  Conclusiones:  se considera de gran valor un examen físico exhaustivo que permita delinear correctamente el fenotipo; sin despreciar la importancia de un interrogatorio minucioso que facilite la elaboración del árbol genealógico que revele la relación de pertenezco de todos sus miembros. Durante el estudio de estas enfermedades de baja frecuencia con heterogeneidad clínica y genética; es necesario la intervención de un equipo multidisciplinaria para a través el método clínico lograr un acertado diagnóstico clínico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ ABSTRACT  Introduction:  Cockayne syndrome is a genetic multisystem disease of rare frequency, characterized by postnatal growth retardation causing short stature, reduction of the generalized adipose panniculus with premature aging appearance, thin skin that allows appreciating capillary circulation, with photosensitivity lesions, progressive neurological dysfunction with intellectual disability.  Case report:  a male patient with growth arrest since the age of four, decrease of adipose panniculus more accentuated in the extremities, with globular abdomen with hepatomegaly and vascular spiders; very thin skin with multiple hyperpigmented and hypopigmented spots caused by trauma, atrophic and photosensitive lesions, along with thin depigmented and brittle hair. The patient was assessed by a multidisciplinary team, and after several studies, an exhaustive physical dysmorphological examination was conducted, throughout the clinical method that allowed the delineation of the phenotype, achieving the definitive diagnosis.  Conclusions:  it is considered of great value an exhaustive physical examination that allows to correctly delineating the phenotype; without disregarding the importance of a thorough interrogation that facilitates the creation of the genealogical tree that reveals the relationship of all its members. During the study of these low frequency diseases with clinical and genetic heterogeneity, the intervention of a multidisciplinary team is necessary to achieve an accurate clinical diagnosis through the clinical method.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[SÍNDROME COCKAYNE]]></kwd>
<kwd lng="es"><![CDATA[ENVEJECIMIENTO PREMATURO]]></kwd>
<kwd lng="es"><![CDATA[POSTNATAL]]></kwd>
<kwd lng="en"><![CDATA[COCKAYNE SYNDROME]]></kwd>
<kwd lng="en"><![CDATA[AGING, PREMATURE]]></kwd>
<kwd lng="en"><![CDATA[POSTNATAL]]></kwd>
</kwd-group>
</article-meta>
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