<?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>0034-7434</journal-id>
<journal-title><![CDATA[Revista Colombiana de Obstetricia y Ginecología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. colomb. obstet. ginecol.]]></abbrev-journal-title>
<issn>0034-7434</issn>
<publisher>
<publisher-name><![CDATA[Federación Colombiana de Obstetricia y GinecologíaRevista Colombiana de Obstetricia y Ginecología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-74342023000400310</article-id>
<article-id pub-id-type="doi">10.18597/rcog.4019</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Annicchiarico-López MD]]></surname>
<given-names><![CDATA[Walter]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peña-Pardo MD]]></surname>
<given-names><![CDATA[Leidy Ximena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Miranda-Quintero MD, PhD]]></surname>
<given-names><![CDATA[Jezid Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Cartagena  ]]></institution>
<addr-line><![CDATA[Cartagena de Indias ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Cartagena Departamento de Ginecología y Obstetricia ]]></institution>
<addr-line><![CDATA[Cartagena de Indias ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalario Serena del Mar Departamento de Ginecología y Obstetricia ]]></institution>
<addr-line><![CDATA[Cartagena de Indias ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<volume>74</volume>
<numero>4</numero>
<fpage>310</fpage>
<lpage>316</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0034-74342023000400310&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0034-74342023000400310&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0034-74342023000400310&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal.  Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A.  Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing.  Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis.  Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[artrogriposis]]></kwd>
<kwd lng="es"><![CDATA[pie zambo]]></kwd>
<kwd lng="es"><![CDATA[exoma]]></kwd>
<kwd lng="es"><![CDATA[síndrome]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico prenatal]]></kwd>
<kwd lng="en"><![CDATA[Arthrogryposis]]></kwd>
<kwd lng="en"><![CDATA[club foot]]></kwd>
<kwd lng="en"><![CDATA[exome]]></kwd>
<kwd lng="en"><![CDATA[syndrome]]></kwd>
<kwd lng="en"><![CDATA[prenatal diagnosis]]></kwd>
</kwd-group>
</article-meta>
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