<?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>1561-3194</journal-id>
<journal-title><![CDATA[Revista de Ciencias Médicas de Pinar del Río]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Ciencias Médicas]]></abbrev-journal-title>
<issn>1561-3194</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-31942021000400014</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome Towens-Brocks, presentación de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Towens-Brocks syndrome. 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 contrib-type="author">
<name>
<surname><![CDATA[Peña Hernández]]></surname>
<given-names><![CDATA[Anavíes Delsy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja Centro Provincial de Genética de Holguín ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>25</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942021000400014&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942021000400014&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942021000400014&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1.  Presentación de caso:  se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor.  Conclusiones:  se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1.  Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development.  Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[MALFORMACIONES ANORRECTALES]]></kwd>
<kwd lng="es"><![CDATA[POLIDACTILIA]]></kwd>
<kwd lng="es"><![CDATA[APÉNDICE]]></kwd>
<kwd lng="es"><![CDATA[ANO IMPERFORADO]]></kwd>
<kwd lng="es"><![CDATA[DEFORMIDADES ADQUIRIDAS DEL OÍDO]]></kwd>
<kwd lng="en"><![CDATA[ANORECTAL MALFORMATIONS]]></kwd>
<kwd lng="en"><![CDATA[POLYDACTYLY]]></kwd>
<kwd lng="en"><![CDATA[APPENDIX]]></kwd>
<kwd lng="en"><![CDATA[ANUS, IMPERFORATE]]></kwd>
<kwd lng="en"><![CDATA[EAR DEFORMITIES, ACQUIRED]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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