<?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>0120-8705</journal-id>
<journal-title><![CDATA[CES Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[CES Med.]]></abbrev-journal-title>
<issn>0120-8705</issn>
<publisher>
<publisher-name><![CDATA[Universidad CES]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87052019000300215</article-id>
<article-id pub-id-type="doi">10.21615/cesmedicina.33.3.7</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Osteogénesis imperfecta tipo IV originada en una rara variante de cambio de sentido en COL1A2]]></article-title>
<article-title xml:lang="en"><![CDATA[Osteogenesis imperfecta type IV originated in a rare variant of change of direction in COL1A2]]></article-title>
</title-group>
<contrib-group>
<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 contrib-type="author">
<name>
<surname><![CDATA[Lizcano-González]]></surname>
<given-names><![CDATA[Katherine]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Cheyne]]></surname>
<given-names><![CDATA[Julián Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle Hospital Universitario del Valle Grupo de investigación Malformaciones Congénitas Perinatales, Genética Medica, Dismorfología UV-HUV]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Caldas  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle Hospital Universitario del Valle Grupo de investigación Malformaciones Congénitas Perinatales, Genética Medica, Dismorfología UV-HUV]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</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>33</volume>
<numero>3</numero>
<fpage>215</fpage>
<lpage>223</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87052019000300215&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87052019000300215&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87052019000300215&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La osteogénesis imperfecta es una rara anomalía genética que se carac teriza por una baja masa ósea y susceptibilidad aumentada a fracturas. La mayoría de los casos se asocian a variantes en los genes COL1A1 y COL1A2 que codifican para el colágeno tipo I. Se ha clasificado en cua tro tipos, siendo el tipo IV el menos frecuente. Se presenta un caso de osteogénesis imperfecta tipo IV en una niña de seis meses, quien tenía escleras azules y acortamiento bilateral del fémur y desviación en varo de la tibia. Las radiografías mostraron desproporción craneofacial y hue sos wormianos, fusión atlanto-odontoidea; luxación coxo-femoral bila teral congénita, acortamiento y desviación del fémur bilateral, fractura antigua en fémur derecho y osteopenia generalizada. Se realizó panel molecular que incluyó los genes ALPL, COL1A1, COL1A2 e IFITM5, mos trando en COL1A2 una transición en heterocigosis de guanina a adenina (c.2531G&gt;A), cambio asociado con osteogénesis imperfecta. El objetivo de este reporte es brindar información sobre la presentación clínica, los métodos diagnósticos y las posibilidades terapéuticas de una rara enfer medad genética.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Osteogenesis imperfecta is a rare genetic anomaly characterized by low bone mass and increased susceptibility to fractures. The majority of cases are associated with variants in the COL1A1 and COL1A2 genes that code for type I collagen. It has been classified into four types, with type IV being the least frequent. We present a case of osteogenesis imperfecta type IV in a six-month-old girl, who had blue scleras and bilateral shortening of the femur and varus deviation of the tibia. X-rays showed craniofacial disproportion and wormian bones, atlanto-odontoid fusion; bilateral congenital bilateral coxo-femoral dislocation, shortening and deviation of the bilateral femur, old fracture in the right femur and generalized osteopenia. A molecular panel was carried out that included the ALPL, COL1A1, COL1A2 and IFITM5 genes, showing in COL1A2 a transition in guanine to adenine heterozygosis (c.2531G&gt;A), a change associated with osteogenesis imperfecta. The objective of this report is to provide information on the clinical presentation, diagnostic methods and therapeutic possibilities of a rare genetic disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Osteogénesis Imperfecta]]></kwd>
<kwd lng="es"><![CDATA[Secuenciación en paralelo ma siva]]></kwd>
<kwd lng="es"><![CDATA[Colágeno]]></kwd>
<kwd lng="en"><![CDATA[Osteogenesis Imperfecta, Massively Parallel Sequencing]]></kwd>
<kwd lng="en"><![CDATA[Collagen]]></kwd>
</kwd-group>
</article-meta>
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