<?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>S1665-11462019000600259</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.19000030</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos]]></article-title>
<article-title xml:lang="en"><![CDATA[Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos-Urrea]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Gloria Da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Departamento de Puericultura y Pediatría Unidad de Genética Médica]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade Federal de São Paulo Departamento de Fisiología de la Nutrición ]]></institution>
<addr-line><![CDATA[São Paulo ]]></addr-line>
<country>Brazil</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>76</volume>
<numero>6</numero>
<fpage>259</fpage>
<lpage>264</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462019000600259&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462019000600259&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462019000600259&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  La osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común, con una incidencia de 1 en 10,000 a 25,000 nacimientos. Este trastorno está causado principalmente por mutaciones de los genes que codifican las cadenas del colágeno tipo I. En la mayoría de los casos, se presenta un patrón de herencia autosómico dominante. La OI se caracteriza principalmente por un aumento en la fragilidad ósea que da lugar a fracturas frecuentes que producen dolor, deformidad y discapacidad asociada con otras alteraciones. El objetivo del estudio fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de OI evaluados en la Universidad de Los Andes.  Métodos:  El presente trabajo consiste en el análisis de una serie de 37 casos pediátricos con diagnóstico de OI, de acuerdo a la clasificación clínica y radiológica de Sillence, evaluados en la consulta de la Unidad de Genética Médica de la Universidad de Los Andes, entre enero de 2006 y diciembre de 2018.  Resultados:  La OI tipo I fue la de presentación más frecuente, con 31 pacientes (83.78%). El fémur fue el hueso más afectado de manera conjunta. Las escleras azules fueron el hallazgo adicional más frecuente, en 32 pacientes (86.49%).  Conclusiones:  La OI representa el principal motivo de consulta por alteraciones en el sistema esquelético en la Unidad de Genética Médica de la Universidad de Los Andes. Ante la amplia forma clínica de presentación, la evaluación debe ser individual e interdisciplinaria. A través de un estudio más profundo se podrá brindar el oportuno asesoramiento genético familiar.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes.  Methods:  A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018.  Results:  Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%).  Conclusions:  OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Osteogénesis imperfecta]]></kwd>
<kwd lng="es"><![CDATA[Colágeno tipo I]]></kwd>
<kwd lng="es"><![CDATA[Estudio clínico]]></kwd>
<kwd lng="es"><![CDATA[Epidemiología]]></kwd>
<kwd lng="es"><![CDATA[Clasificación de Sillence]]></kwd>
<kwd lng="en"><![CDATA[Osteogenesis imperfecta]]></kwd>
<kwd lng="en"><![CDATA[Type I collagen]]></kwd>
<kwd lng="en"><![CDATA[Clinical study]]></kwd>
<kwd lng="en"><![CDATA[Epidemiology]]></kwd>
<kwd lng="en"><![CDATA[Sillence classification]]></kwd>
</kwd-group>
</article-meta>
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