<?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>1699-695X</journal-id>
<journal-title><![CDATA[Revista Clínica de Medicina de Familia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Clin Med Fam]]></abbrev-journal-title>
<issn>1699-695X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Medicina de Familia y Comunitaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1699-695X2018000200112</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Stickler: cuando el desprendimiento de retina se hereda]]></article-title>
<article-title xml:lang="en"><![CDATA[Stickler syndrome: when retinal detachment becomes heritable]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Oscullo-Yepez]]></surname>
<given-names><![CDATA[Viviana R.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sierra-Santos]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Oscullo-Yepez]]></surname>
<given-names><![CDATA[Jasson J.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Oscullo-Yepez]]></surname>
<given-names><![CDATA[Grace J.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Área Este Centro de Salud Mar Báltico Medicina Familiar y Comunitaria]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro de Salud Manzanares - Consultorio de El Boalo Medicina Familiar y Comunitaria ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Internacional del Ecuador Facultad de Ciencias Médicas, de la Salud y la Vida ]]></institution>
<addr-line><![CDATA[Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario y Politécnico de La Fe Neumología ]]></institution>
<addr-line><![CDATA[Valencia ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2018</year>
</pub-date>
<volume>11</volume>
<numero>2</numero>
<fpage>112</fpage>
<lpage>115</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1699-695X2018000200112&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1699-695X2018000200112&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1699-695X2018000200112&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Presentamos el caso clínico de un varón de 11 años que acude a la consulta de Atención Primaria por alteración de la agudeza visual, siendo diagnosticado de miopía magna bilateral. Tras una evolución tórpida presenta un desprendimiento de retina y sordera neurosensorial que, junto con las anomalías orofaciales, lleva a ser diagnosticado de síndrome de Stickler. A pesar de ser una entidad genética rara, nuestro objetivo es describir las principales características, dado que independientemente de que se descubran de manera casual o a raíz de un familiar afecto, su diagnóstico precoz mejora notablemente el pronóstico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Case report of an 11-year-old boy who attends Primary Healthcare due to reduced visual acuity, being diagnosed with severe bilateral myopia. After poor clinical course, retinal detachment appears, accompanied with sensorineural hearing loss. This finding, together with orofacial deformities, constitutes Stickler Syndrome. Although it is a rare genetic disease, our objective is to describe its main characteristics, since, whether a casual finding or a family defect, an early diagnosis significantly improves prognosis.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Desprendimiento de Retina]]></kwd>
<kwd lng="es"><![CDATA[Trastornos de la Visión]]></kwd>
<kwd lng="es"><![CDATA[Pérdida Auditiva]]></kwd>
<kwd lng="en"><![CDATA[Retinal Detachment]]></kwd>
<kwd lng="en"><![CDATA[Vision Disorders]]></kwd>
<kwd lng="en"><![CDATA[Hearing Loss]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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