<?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>1608-8921</journal-id>
<journal-title><![CDATA[Gaceta Médica Espirituana]]></journal-title>
<abbrev-journal-title><![CDATA[Gac Méd Espirit]]></abbrev-journal-title>
<issn>1608-8921</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Sancti Spíritus]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1608-89212019000300122</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Apert. Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Apert syndrome. Case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yumar Díaz]]></surname>
<given-names><![CDATA[Amary]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez López]]></surname>
<given-names><![CDATA[Maikel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soria Díaz]]></surname>
<given-names><![CDATA[Migdiala]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez Millian]]></surname>
<given-names><![CDATA[Martha Beatriz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Provincial General Camilo Cienfuegos  ]]></institution>
<addr-line><![CDATA[Sancti Spíritus ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>21</volume>
<numero>3</numero>
<fpage>122</fpage>
<lpage>130</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1608-89212019000300122&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1608-89212019000300122&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1608-89212019000300122&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento:  El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria.  Objetivo:  Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño.  Reporte de caso:  Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert.  Conclusiones:  Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background:  Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance.  Objective:  To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child.  Case report:  A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome.  Conclusions:  Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Acrocefalosindactilia]]></kwd>
<kwd lng="es"><![CDATA[acrocefalia]]></kwd>
<kwd lng="es"><![CDATA[craneosinostosis]]></kwd>
<kwd lng="es"><![CDATA[sindactilia]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Apert]]></kwd>
<kwd lng="en"><![CDATA[Acrocephalosyndactylia]]></kwd>
<kwd lng="en"><![CDATA[acrocephaly]]></kwd>
<kwd lng="en"><![CDATA[craniosynostoses]]></kwd>
<kwd lng="en"><![CDATA[syndactyly]]></kwd>
<kwd lng="en"><![CDATA[Apert syndrome]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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