<?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>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322017000200008</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Prader-Willi: diagnóstico en el periodo neonatal]]></article-title>
<article-title xml:lang="en"><![CDATA[Neonatal presentation of Prader-Willi syndrome: report of a case]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cano del Águila]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz Movilla]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Iglesias Escalera]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez Badás]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Puerta de Hierro  ]]></institution>
<addr-line><![CDATA[Majadahonda Madrid]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Puerta de Hierro Servicio de Pediatría Unidad de Neonatología]]></institution>
<addr-line><![CDATA[Majadahonda Madrid]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<volume>19</volume>
<numero>74</numero>
<fpage>151</fpage>
<lpage>156</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322017000200008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322017000200008&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322017000200008&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El síndrome de Prader-Willi debe formar parte del diagnóstico diferencial en los casos de hipotonía de presentación neonatal de origen central, especialmente cuando se acompaña de otras características clínicas típicas de la enfermedad. La importancia de su diagnóstico precoz, ya sea en el ámbito hospitalario o desde las consultas de Atención Primaria, reside tanto en la necesidad de instaurar una adecuada estimulación y fisioterapia por parte de los Servicios de Atención Temprana como de un correcto soporte nutricional en los que debutan con trastorno importante de succión. Así mismo es importante ofrecer un correcto consejo genético para planificar futuras gestaciones. Presentamos el caso clínico de un recién nacido con hipotonía de presentación neonatal junto con criptorquidia bilateral y fenotipo peculiar, en el que se confirmó, mediante estudio genético, el diagnóstico de sospecha de síndrome de Prader-Willi.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: Prader-Willi syndrome should be part of the differential diagnosis in cases of central neonatal hypotonia, especially when accompanied by other typical clinical features of the disease. The importance of an early diagnosis, either in hospital or in primary care center lies both in the need to establish an early care and nutritional support, which will improve the quality of life of patients suffering from this syndrome, and genetic counselling that should be made to parents of affected children to plan future pregnancies. We present the case of a new-born with neonatal hypotonia, bilateral cryptorchidism and peculiar phenotype, in which the suspected diagnosis of Prader-Willi syndrome was confirmed by genetic study. We also present a review of the etiology, phenotypic findings and clinical course over the stages of life, management and prognosis of the entity.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Prader-Willi]]></kwd>
<kwd lng="es"><![CDATA[Criptorquidia]]></kwd>
<kwd lng="es"><![CDATA[Hipotonía neonatal]]></kwd>
<kwd lng="en"><![CDATA[Prader-Willi syndrome]]></kwd>
<kwd lng="en"><![CDATA[Cryptorchidism]]></kwd>
<kwd lng="en"><![CDATA[Neonatal hypotonia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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