<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462021000300234</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.20000119</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans]]></article-title>
<article-title xml:lang="es"><![CDATA[Diagnóstico clínico, radiológico y molecular de fibrodisplasia osificante progresiva]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ordóñez-Labastida]]></surname>
<given-names><![CDATA[Vianey]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cárdenas-Conejo]]></surname>
<given-names><![CDATA[Alan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Huicochea-Montiel]]></surname>
<given-names><![CDATA[Juan C.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Paredez-Rivera]]></surname>
<given-names><![CDATA[Guadalupe E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hidalgo-Bravo]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Monterde-Cruz]]></surname>
<given-names><![CDATA[Lucero M.J.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aráujo-Solís]]></surname>
<given-names><![CDATA[María A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Nacional de Rehabilitación Servicio de Genética y Genómica ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Fundación Teletón México  ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<volume>78</volume>
<numero>3</numero>
<fpage>234</fpage>
<lpage>238</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462021000300234&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462021000300234&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462021000300234&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually secondary to trauma. The ossification foci generate pain, joint ankyloses, and restricted movement. Congenital shortening and medial deviation first metatarsal of the foot is a distinctive feature. This report aimed to present an educational value case of a patient with clinical, imaging, and molecular diagnosis of progressive fibrodysplasia ossificans, recognized as a rare condition that severely affects the quality of life.  Case report: We present the case of a 6-year-old female patient with lumps in the right scapular and dorsal region, progressive joint rigidity, and short first metatarsal medially deviated since birth. By imaging studies, we established the diagnosis of progressive fibrodysplasia ossificans. Sanger sequencing of ACVR1 reported c.617G&gt;A (p.Arg206His).  Conclusions: Confirmation of the diagnosis allowed genetic counseling, including a comprehensive explanation of the disease’s natural history and measures to prevent its rapid progression.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La fibrodisplasia osificante progresiva es una enfermedad genética poco frecuente, causada por variantes patogénicas en estado heterocigoto (herencia autosómica dominante) en el gen ACVR1, que provoca osificación heterotópica progresiva en músculos, tendones y ligamentos, comúnmente secundaria a traumatismos. Los focos de osificación generan dolor, anquilosis articular y restricción del movimiento. Es característico el acortamiento congénito y la desviación medial del primer metatarsiano del pie. El objetivo de este reporte es presentar un caso de alto valor educativo de una paciente con diagnóstico clínico, imagenológico y molecular de fibrodisplasia osificante progresiva, reconocida como una condición infrecuente y que afecta de manera grave la calidad de vida.  Caso clínico: Paciente de sexo femenino con tumoraciones induradas en la región dorsal y escapular, detectadas a los 6 años de vida. Cursaba además con rigidez articular progresiva y primer metatarsiano del pie acortado y con desviación en sentido medial desde el nacimiento. Por estudios de imagen se estableció el diagnóstico de fibrodisplasia osificante progresiva. Por secuenciación Sanger se reportó c.617G&gt;A (p.Arg206His) en ACVR1.  Conclusiones: La confirmación del diagnóstico permitió ofrecer un asesoramiento genético integral, incluyendo una amplia explicación de la evolución natural del padecimiento y de las medidas preventivas para disminuir su rápida progresión.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Myositis ossificans]]></kwd>
<kwd lng="en"><![CDATA[Diagnostic]]></kwd>
<kwd lng="en"><![CDATA[Genetics]]></kwd>
<kwd lng="en"><![CDATA[Genetic counseling]]></kwd>
<kwd lng="es"><![CDATA[Miositis osificante]]></kwd>
<kwd lng="es"><![CDATA[Diagnóstico]]></kwd>
<kwd lng="es"><![CDATA[Genética]]></kwd>
<kwd lng="es"><![CDATA[Asesoramiento genético]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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