<?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>2709-7927</journal-id>
<journal-title><![CDATA[Acta Médica del Centro]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd centro]]></abbrev-journal-title>
<issn>2709-7927</issn>
<publisher>
<publisher-name><![CDATA[Hospital Provincial Clínico Quirúrgico Universitario Arnaldo Milián Castro]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2709-79272023000100154</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Holt-Oram asociado con atresia esofágica. Presentación de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Holt-Oram syndrome associated with esophageal atresia. Presentation of a case]]></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-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética Médica de Holguín  ]]></institution>
<addr-line><![CDATA[ Holguín]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2023</year>
</pub-date>
<volume>17</volume>
<numero>1</numero>
<fpage>154</fpage>
<lpage>160</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2709-79272023000100154&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2709-79272023000100154&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2709-79272023000100154&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  el síndrome de Holt-Oram es una enfermedad hereditaria de baja frecuencia, con amplia heterogeneidad clínica. Se caracteriza por el defecto esquelético en los miembros superiores, de grado variable y asimétrico, asociado a cardiopatías congénitas.  Información del paciente:  se presenta un niño de cuatro años, con diagnóstico clínico de síndrome de Holt-Oram, que presenta acortamiento del miembro superior izquierdo, cardiopatía congénita y atresia esofágica; es el primer afectado en su familia, por lo que se consideró que se produjo por nueva mutación.  Conclusiones:  por lo poco usual de la presentación de este síndrome asociado a malformación digestiva resultó difícil llegar el diagnóstico clínico, para el que fue de gran valor el método clínico o de patrón. Resultó necesaria la interconsulta del caso con otros investigadores; no se pudo efectuar el estudio molecular. Es importante llegar al diagnóstico clínico de la enfermedad genética para poder brindar un adecuado asesoramiento genético a la familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Holt-Oram syndrome is a low frequency hereditary disease, with wide clinical heterogeneity. Characterized by skeletal defect in the upper limbs of variable and asymmetric degree, associated with congenital heart disease.  Case presentation:  a four-year-old boy was presented, a male with a clinical diagnosis of Holt-Oram Syndrome, who presents shortening of the left upper limb, congenital heart disease and esophageal atresia, the first affected in his family, so it was considered that it occurred by new mutation.  Conclusions:  due to the unusual occurrence of this syndrome associated with digestive malformation, it was difficult to reach the clinical diagnosis, where the clinical or pattern method was of great value to define the case. It was necessary to consult the case with other researchers, without being able to carry out a molecular study. Considering it is important to reach the clinical diagnosis of the genetic disease to provide adequate genetic counseling to this family.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome Holt-Oram]]></kwd>
<kwd lng="es"><![CDATA[síndrome mano-corazón, síndrome atrio-digital]]></kwd>
<kwd lng="es"><![CDATA[cardiopatía congénita]]></kwd>
<kwd lng="es"><![CDATA[síndrome cardiomélico]]></kwd>
<kwd lng="es"><![CDATA[displasia atrio-ventricular]]></kwd>
<kwd lng="es"><![CDATA[atresia esofágica]]></kwd>
<kwd lng="en"><![CDATA[Holt-Oram Syndrome]]></kwd>
<kwd lng="en"><![CDATA[hand-heart syndrome]]></kwd>
<kwd lng="en"><![CDATA[atrio-digital syndrome]]></kwd>
<kwd lng="en"><![CDATA[congenital heart disease]]></kwd>
<kwd lng="en"><![CDATA[cardiomyel syndrome]]></kwd>
<kwd lng="en"><![CDATA[atrioventricular dysplasia]]></kwd>
<kwd lng="en"><![CDATA[esophageal atresia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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