<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492019000500283</article-id>
<article-id pub-id-type="doi">10.31134/ap.90.5.5</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome branquio-oto-renal. Presentación de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Branchio-oto-renal syndrome. Case study]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome brânquio-otorrenal. Relato de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dell&#8217;Oca]]></surname>
<given-names><![CDATA[Nicolás]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pose]]></surname>
<given-names><![CDATA[Cecilia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salmini]]></surname>
<given-names><![CDATA[Karina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tapié]]></surname>
<given-names><![CDATA[Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Raggio]]></surname>
<given-names><![CDATA[Víctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Genética]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,UDELAR Facultad de Medicina ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital de Florida Depto. Pediatría ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<volume>90</volume>
<numero>5</numero>
<fpage>283</fpage>
<lpage>288</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492019000500283&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492019000500283&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492019000500283&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El síndrome branquio-oto-renal (BOR) es un trastorno hereditario autosómico dominante, poco frecuente, que se presenta con expresividad variable y penetrancia reducida, con gran heterogeneidad clínica inter e intrafamiliar. Es causado por alteraciones del desarrollo del oído, riñones y de los segundos arcos branquiales, estructura que en el embrión en desarrollo da origen a tejidos del cuello. Los hallazgos clínicos más comunes son las fístulas o quistes en el cuello, déficit auditivo, malformaciones del oído externo con apéndices u hoyuelos preauriculares y afectación renal uni o bilateral que va de moderada a severa. El síndrome es causado principalmente por mutaciones en el gen EYA1 que actúa como regulador transcripcional durante la embriogénesis, las cuales se detectan en el 40% de los pacientes. Presentamos un caso ilustrativo de síndrome de BOR que se mostró con hallazgos clínicos sugestivos como fositas preauriculares, fístulas branquiales, hipoacusia severa con anomalías anatómicas del oído, compromiso renal y antecedentes familiares. En este paciente se encontró una variante patogénica en el gen EYA1: c.1081C&gt;T (p.Arg361TER). Esta es considerada una variante nula, ya que provoca un codón de terminación prematuro que conduce a una pérdida de la función de la proteína. Dada la expresividad variable del síndrome de BOR, el diagnóstico molecular cobra importancia para evitar errores diagnósticos, iniciar el seguimiento familiar en cascada con el fin de identificar familiares afectados y para implementar medidas preventivas tendientes a disminuir la morbilidad y mortalidad causadas por este síndrome.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: The branchio-oto-renal syndrome (BOR) is an uncommon autosomal dominant genetic disorder with variable expressivity, reduced penetrance and significant clinical and intra-familial heterogeneity. It is caused by alterations in the development of the ears, kidneys and second branchial arches, a structure that in developing embryos produces neck tissue. The most common clinical findings are neck fistulas or cysts, hearing loss, malformations of the outer ear with appendices and/or pre-auricular dimples and unilateral or bilateral moderate to severe renal involvement. The syndrome is mainly caused by mutations in the EYA1 gene that acts as a transcriptional regulator during embryogenesis, and which are detected in 40% of patients. We hereby introduce a representative case of BOR syndrome that showed suggestive clinical findings such as preauricular holes, branchial fistulas, severe hearing loss with anatomical anomalies of the ear, and renal impairment. In this case, we found a pathogenic variant in the EYA1 gene: c.1081C&gt;T (p.Arg361TER). This is considered a null variant, since it causes a premature stop codon that leads to protein function loss. Given the BOR Syndrome variable expressivity, molecular diagnosis is relevant to prevent diagnostic errors, initiate familial cascade screening in order to identify affected relatives and to implement preventive measures aimed at reducing the morbidity and mortality caused by this syndrome.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A síndrome branquio-oto-renal (BOR) é uma desordem genética autossômica dominante incomum com expressividade variável, penetrância reduzida e significativa heterogeneidade clínica e intrafamiliar. É causada por alterações no desenvolvimento das orelhas, rins e segundos arcos branquiais, as quais durante o desenvolvimento do embrião produzem tecido no pescoço. Os achados clínicos mais comuns são fístulas ou cistos no pescoço, déficit auditivo, malformações da orelha externa com apêndices e / ou seios pré-auriculares e comprometimento renal moderado a grave unilateral ou bilateral. A síndrome é causada principalmente por mutações no gene EYA1, que atua como regulador da transcrição durante a embriogênese e é detectada em 40% dos pacientes. Introduzimos aqui um caso representativo da síndrome BOR que apresentou achados clínicos sugestivos, como fossas pré-auriculares, fístulas branquiais, perda auditiva grave com anomalias anatômicas da orelha e comprometimento renal. Nesse caso, encontramos uma variante patogênica no gene EYA1: c.1081C&gt; T (p.Arg361TER). Isso é considerado uma variante nula, pois causa um códon de parada prematuro que leva a uma perda da função da proteína. Dada a expressividade variável da síndrome do ROR, o diagnóstico molecular é relevante para evitar erros de diagnóstico, iniciar o rastreamento em cascata familiar, a fim de identificar os familiares afetados e implementar medidas preventivas destinadas a reduzir a morbimortalidade causada pela síndrome.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome branquio-oto-renal]]></kwd>
<kwd lng="es"><![CDATA[Informes de casos]]></kwd>
<kwd lng="en"><![CDATA[Branchio-oto-renal syndrome]]></kwd>
<kwd lng="en"><![CDATA[Case reports]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome brânquio-otorrenal]]></kwd>
<kwd lng="pt"><![CDATA[Relatos de casos]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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