<?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>0186-2391</journal-id>
<journal-title><![CDATA[Acta pediátrica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Acta pediatr. Méx]]></abbrev-journal-title>
<issn>0186-2391</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0186-23912018000100042</article-id>
<article-id pub-id-type="doi">10.18233/apm1no1pp42-511539</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Phelan-McDermid: reporte de un caso y revisión de la literatura]]></article-title>
<article-title xml:lang="en"><![CDATA[Phelan-McDermid syndrome: A case report and literature review]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández-Gómez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Meléndez-Hernández]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Arroyo]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mayén-Molina]]></surname>
<given-names><![CDATA[DG.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Ángeles Lomas  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Ángeles Lomas  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Ángeles Lomas  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Ángeles Lomas  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2018</year>
</pub-date>
<volume>39</volume>
<numero>1</numero>
<fpage>42</fpage>
<lpage>51</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0186-23912018000100042&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0186-23912018000100042&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0186-23912018000100042&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de Phelan-McDermid (SPMD) es un desorden del neurodesarrollo, también llamado síndrome de deleción 22q13.3, que genera la pérdida de la función del gen SHANK3. Se caracteriza por hipotonía neonatal severa, retardo global del desarrollo, retraso severo o ausencia de lenguaje y dismorfias menores. El 80% de los casos son de novo y, a pesar de que su prevalencia es desconocida, se han descrito aproximadamente 1200 casos alrededor del mundo. Es una causa frecuente de desorden con espectro autista y de discapacidad intelectual, contribuyendo con el 0.5 a 2% de todos los casos. El método diagnóstico de elección es el estudio de microarreglos acompañado de citogenética convencional. Este artículo describe un caso de SPMD, diagnosticado hasta los cuatro años, con datos clínicos altamente sugestivos desde temprana edad. Es un caso de novo debido a una deleción de 4.3 Mb, resultado de la formación de un anillo cromosómico. Consideramos que mediante la difusión de este caso contribuiremos a la divulgación del SPMD, lo que puede permitir, junto con la tecnología diagnóstica actual, que los pacientes y sus familiares se beneficien de un diagnóstico más rápido, oportuno y de un mejor manejo.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Phelan-McDermid syndrome is a neurodevelopmental disorder, also called 22q13.3 deletion syndrome, resulting in the loss of function of the gene SHANK3. It is characterized by severe neonatal hypotonia, global developmental delay, sever speech delays or absence of language and minor dysmorphic features. 80% of cases are de novo, although their prevalence is unknown, approximately 1200 cases have been described around the world. It is a frequent cause of autism spectrum disorder and intellectual disability, contributing 0.5 to 2% of all cases. Microarray is the study of choice with conventional citogenetics. In this report we present one case of Phelan-McDermid syndrome, with highly suggestive clinical data at a very early age who was diagnosed until 4 years of age. It is a de novo case, due to a deletion of 4.3 Mb resulting from the formation of a chromosomal ring. We believe that by disseminating this case, we will contribute to the disclosure of this entity, which may allow, together with the current diagnostic technology, that patients and their families benefit from a faster, timely diagnosis and a better follow-up.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[deleción 22q13.3]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Phelan-McDermid]]></kwd>
<kwd lng="es"><![CDATA[desorden genómico]]></kwd>
<kwd lng="es"><![CDATA[gen SHANK3]]></kwd>
<kwd lng="en"><![CDATA[22q13.3 deletion]]></kwd>
<kwd lng="en"><![CDATA[Phelan-Mcdermid syndrome]]></kwd>
<kwd lng="en"><![CDATA[genomic disorder]]></kwd>
<kwd lng="en"><![CDATA[SHANK3 gene]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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