<?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>0121-0793</journal-id>
<journal-title><![CDATA[Iatreia]]></journal-title>
<abbrev-journal-title><![CDATA[Iatreia]]></abbrev-journal-title>
<issn>0121-0793</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Antioquia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-07932016000300352</article-id>
<article-id pub-id-type="doi">10.17533/udea.iatreia.v29n3a09</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Ehlers-Danlos, variante musculocontractural. Informe de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Ehlers-Danlos syndrome, musculocontractural variant. A case report]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Ehlers-Danlos, variante musculocontractural. Informe de um caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Franco-Buenaventura]]></surname>
<given-names><![CDATA[Daniela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Cheyne]]></surname>
<given-names><![CDATA[Julián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saldarriaga-Gil]]></surname>
<given-names><![CDATA[Wilmar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>07</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>07</month>
<year>2016</year>
</pub-date>
<volume>29</volume>
<numero>3</numero>
<fpage>352</fpage>
<lpage>358</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-07932016000300352&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-07932016000300352&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-07932016000300352&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El síndrome de Ehlers-Danlos comprende un conjunto de trastornos hereditarios que comparten hiperextensibilidad de la piel, hipermovilidad articular y fragilidad tisular manifiesta como disminución de la fuerza de tensión y de la integridad de la piel y las articulaciones. La frecuencia de este síndrome, para todas las variantes combinadas, se ha estimado en 1 en 5000 a 1 en 10 000 personas. Sin embargo, se desconocen la prevalencia e incidencia exactas. Entre las variantes descritas de Ehlers-Danlos se incluye la musculocontractural, cuyas principales características son las siguientes: dismorfismo craneofacial típico, contracturas congénitas de los pulgares y los dedos, pie equinovaro, cifoescoliosis, hipotonía muscular, piel fina hiperextensible, facilidad para el desarrollo de equimosis, cicatrices atróficas, acrogeria, hipermovilidad de las articulaciones y problemas oculares. Se presenta un caso de dicha variante y se hace una breve revisión de la literatura.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY Ehlers-Danlos syndrome comprises a group of hereditary disordes that share skin hyperextensibility, joint hipermobility and tissular fragility manifested as diminished tensile strenght and integrity of skin and joints. The estimated frequency, for the whole group, is 1 in 5.000 to 1 in 10.000 people. Nevertheless, the exact prevalence and incidence are unknown. One of the described subtypes of Ehlers-Danlos is the musculocontractural, whose primary characteristics include typical craneofacial dysmorphism, congenital thumb and fingers contractures, club foot, kyphoscoliosis, muscular hypotony, thin hyperextensible skin, easy bruising, atrophic scaring, acrogeria, joint hypermobility, and ocular problems. We present a case of this variant and a brief literature review.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO A síndrome de Ehlers-Danlos compreende um conjunto de transtornos hereditários que compartilham hiperextensibilidade da pele, hipermobilidade articular e fragilidade tissular manifesta como diminuição da força de tensão e da integridade da pele e as articulações. A frequência desta síndrome, para todas as variantes combinadas, se há estimado em 1 em 5.000 a 1 em 10.000 pessoas. Embora, se desconhecem a prevalência e incidência exatas. Entre as variantes descritas de Ehlers-Danlos se inclui a musculocontractural, cujas principais características são as seguintes: dimorfismo craniofacial típico, contraturas congénitas dos polegares e os dedos, pé equinovaro, cifoescoliose, hipotonia muscular, pele fina hiperextensível, facilidade para o desenvolvimento de equimoses, cicatrizes atróficas, acrogeria, hipermobilidade das articulações e problemas oculares. Se apresenta um caso de dita variante e se faz uma breve revisão da literatura.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Defectos Congénitos]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades del Tejido Conectivo]]></kwd>
<kwd lng="es"><![CDATA[Sindrome de Ehlers-Danlos]]></kwd>
<kwd lng="en"><![CDATA[Congenital Abnormalities]]></kwd>
<kwd lng="en"><![CDATA[Connective Tissue Diseases]]></kwd>
<kwd lng="en"><![CDATA[Ehlers-Danlos Syndrome]]></kwd>
<kwd lng="pt"><![CDATA[Defeitos Congénitos]]></kwd>
<kwd lng="pt"><![CDATA[Doenças do Tecido Conectivo]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Ehlers-Danlos]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Beighton]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[De Paepe]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Steinmann]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Tsipouras]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Wenstrup]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet]]></source>
<year>1998</year>
<volume>77</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>31-7</page-range></nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Defendi]]></surname>
<given-names><![CDATA[GL]]></given-names>
</name>
</person-group>
<source><![CDATA[Genetics of Ehlers-Danlos Syndrome]]></source>
<year>2015</year>
<publisher-loc><![CDATA[Nueva York ]]></publisher-loc>
<publisher-name><![CDATA[Medscape]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Beighton]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<source><![CDATA[The Ehlers-Danlos syndromes. In: McKusick's Heritable Disorders of Connective Tissue]]></source>
<year>1993</year>
<edition>5</edition>
<page-range>189-93</page-range><publisher-loc><![CDATA[Maryland Heights ]]></publisher-loc>
<publisher-name><![CDATA[Mosby]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Images in clinical medicine. Ehlers- Danlos syndrome]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[CW]]></given-names>
</name>
<name>
<surname><![CDATA[Jao]]></surname>
<given-names><![CDATA[SW]]></given-names>
</name>
</person-group>
<source><![CDATA[N Engl J Med]]></source>
<year>2007</year>
<volume>357</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>e12</page-range></nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Musculoskeletal manifestations of Ehlers - Danlos syndrome]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Childs]]></surname>
<given-names><![CDATA[SG]]></given-names>
</name>
</person-group>
<source><![CDATA[Orthop Nurs]]></source>
<year>2010</year>
<volume>29</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>133-9</page-range></nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rombaut]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Malfait]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Cools]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[De Paepe]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Calders]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<source><![CDATA[Disabil Rehabil]]></source>
<year>2010</year>
<volume>32</volume>
<numero>16</numero>
<issue>16</issue>
<page-range>1339-45</page-range></nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Ehlers-Danlos syndrome]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gawthrop]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Mould]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Sperritt]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Neale]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<source><![CDATA[BMJ]]></source>
<year>2007</year>
<volume>335</volume>
<page-range>448-50</page-range></nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[O'Neill]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Ehlers-Danlos Syndrome, Musculocontractural type 1; EDSMC1]]></source>
<year>2015</year>
<publisher-loc><![CDATA[Maryland ]]></publisher-loc>
<publisher-name><![CDATA[OMIM, Johns Hopkins University]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[O'Neill]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Ehlers-Danlos Syndrome, Musculocontractural type 2; EDSMC2]]></source>
<year>2015</year>
<publisher-loc><![CDATA[Maryland ]]></publisher-loc>
<publisher-name><![CDATA[OMIM, Johns Hopkins University]]></publisher-name>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
