<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492019000400215</article-id>
<article-id pub-id-type="doi">10.31134/ap.90.4.5</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Osteogénesis imperfecta tipo II: a propósito de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Case report of osteogenesis imperfecta type II]]></article-title>
<article-title xml:lang="pt"><![CDATA[Relato de caso de osteognêse imperfeita Tipo II]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Altamirano]]></surname>
<given-names><![CDATA[Lovelia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[De María]]></surname>
<given-names><![CDATA[Manuela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pose]]></surname>
<given-names><![CDATA[Guillermo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,ASSE CHPR Servicio Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,ASSE CHPR Servicio Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,ASSE CHPR Servicio Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2019</year>
</pub-date>
<volume>90</volume>
<numero>4</numero>
<fpage>215</fpage>
<lpage>220</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492019000400215&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492019000400215&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492019000400215&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  la osteogénesis imperfecta es una enfermedad hereditaria predominantemente autosómica dominante que se caracteriza por una disminución de la masa ósea y susceptibilidad a las fracturas. Es una enfermedad rara, con una incidencia general de 1 en 15.000 a 20.000 nacimientos.  Objetivo:  presentar un caso clínico infrecuente de osteogénesis imperfecta, considerada la forma más grave y letal de esta entidad, con elevada mortalidad en el período neonatal precoz.  Caso clínico:  describimos el manejo y la evolución de un recién nacido con diagnóstico prenatal de probable displasia esquelética. Al nacimiento presenta manifestaciones clínicas y radiológicas características, confirmándose una mutación en heterocigosis en el gen COL1A2, variante probablemente patogénica asociada a formas severas de osteogénesis imperfecta. Los hallazgos en el estudio necrópsico apoyan el diagnóstico de OI tipo II.  Conclusiones:  la osteogénesis imperfecta tipo II es un desorden genético de presentación infrecuente, con una alta mortalidad en el período neonatal temprano. El soporte ventilatorio, las medidas de confort y sedoanalgesia fueron la base del tratamiento en este paciente. A pesar de la baja probabilidad de recurrencia en próximos embarazos, destacamos la importancia del asesoramiento genético para esta familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Background: osteogenesis imperfecta is mainly an autosomal dominant hereditary disease characterized by a decrease in bone mass and susceptibility to fractures. It is a rare disease with an incidence of 1 in 15,000 - 20,000 births.  Objective:  to present the case of a newborn with a diagnosis of osteogenesis imperfecta type II, the most serious and lethal form.  Case report:  we describe the management and evolution of a newborn with a prenatal diagnosis of Osteogenesis Imperfecta. At birth, she presented clinical and radiologic manifestations that suggested OI, confirming a mutation in heterozygosis of the COL1A2 gene, a pathogenic variant associated with severe forms. The necropsy supports the diagnosis.  Conclusions:  osteogenesis imperfecta type II is an infrequent genetic disorder, with high mortality in the early neonatal period. The treatment for this newborn was based on ventilatory support, comfort measures and sedoanalgesia. Despite the low probability of recurrence in case of future pregnancies, we emphasized the importance of genetic counseling for this family.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Antecedentes:  a osteogênese imperfeita é principalmente uma doença hereditária autossômica dominante caracterizada por uma diminuição na massa óssea e suscetibilidade a fraturas. É uma doença rara com uma incidência de 1 em 15.000 - 20.000 nascimentos.  Objetivo: apresentar o caso de um recém-nascido com diagnóstico de osteogênese imperfeita tipo II, a forma mais grave e letal.  Relato de caso:  descrevemos o manejo e a evolução de um recém-nascido com diagnóstico pré-natal de osteogênese imperfeita. Ao nascer, apresentou manifestações clínicas e radiológicas sugestivas de osteogênese imperfeita, confirmando uma mutação na heterozigose do gene COL1A2, uma variante patogênica associada a formas graves. A necropsia suporta o diagnóstico.  Conclusões:  a osteogênese imperfeita tipo II é um distúrbio genético pouco frequente, com alta mortalidade no período neonatal precoce. O tratamento para esse recém-nascido foi baseado em suporte ventilatório, medidas de conforto e sedoanalgesia. Apesar da baixa probabilidade de recorrência em futuras gestações, enfatizamos a importância do aconselhamento genético para essa família.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Osteogénesis imperfecta]]></kwd>
<kwd lng="es"><![CDATA[Tejido conectivo]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades genéticas congénitas]]></kwd>
<kwd lng="en"><![CDATA[Osteogenesis imperfecta]]></kwd>
<kwd lng="en"><![CDATA[Connective tissue]]></kwd>
<kwd lng="en"><![CDATA[Inborn genetic diseases]]></kwd>
<kwd lng="pt"><![CDATA[Osteogênese Imperfeita]]></kwd>
<kwd lng="pt"><![CDATA[Tecido conjuntivo]]></kwd>
<kwd lng="pt"><![CDATA[Doenças genéticas inatas]]></kwd>
</kwd-group>
</article-meta>
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