<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312019000400010</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Osteogénesis imperfecta de tipo III en niño ecuatoriano]]></article-title>
<article-title xml:lang="en"><![CDATA[Osteogenesis imperfecta type III in an Ecuadorian child]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castañeda Guillot]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yungan Moreno]]></surname>
<given-names><![CDATA[Víctor Fabán]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galarza Brito]]></surname>
<given-names><![CDATA[Juan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Elvirez Gutiérrez]]></surname>
<given-names><![CDATA[Ángela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Regional Autónoma de Los Andes (UNIANDES) Facultad de Ciencias Médicas ]]></institution>
<addr-line><![CDATA[Ambato ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana  ]]></institution>
<addr-line><![CDATA[Facultad de Medicina Calixto García ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Regional Autónoma de Los Ande (UNIANDES), Carrera de Medicina  ]]></institution>
<addr-line><![CDATA[Ambato ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Pablo Arturo Suárez  ]]></institution>
<addr-line><![CDATA[ Quito]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Instituto de Gastroenterología Departamento de Imagenología ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</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>91</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312019000400010&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312019000400010&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312019000400010&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  la osteogénesis imperfecta es una rara enfermedad genética hereditaria caracterizada por su heterogeneidad causada por defectos del tejido conectivo con el rasgo de fragilidad ósea determinante de múltiples fracturas, incluso prenatales; deformidades de huesos largos y columna vertebral y otros síntomas extra-esqueléticos, como escleróticas de color azul, dentinogénesis imperfecta, trastorno de audición y afectación cardiovascular.  Objetivo:  Presentar un paciente con las características clínicas e imagenológicas de osteogénesis imperfecta de tipo III.  Presentación del caso:  Niño ecuatoriano de 4 años de edad de baja talla con antecedente de fracturas múltiples desde los 8 meses de nacido, con deformidad en columna vertebral demostrada por radiología por cifoescoliosis en forma de &#8220;S&#8221; y fracturas vertebrales, con deformidad progresiva en huesos largos; ha sufrido 16 fracturas, no deambula, sensorio presente, orientado en tiempo y espacio, desarrollo cognitivo normal para la edad. La fragilidad ósea del niño según el fenotipo clasifica al diagnóstico de tipo III de osteogénesis imperfecta, el cual es progresivo e invalidante por las deformidades óseas y múltiples fracturas demostradas en exámenes imagenológicos, sin modificaciones en el color de escleróticas, de herencia presumiblemente dominante.  Conclusiones:  La descripción clínica y radiológica de osteogénesis imperfecta, afección poco conocida, correspondiente al fenotipo III de la enfermedad, reportada en niño ecuatoriano de 4 años de edad, con talla baja que no deambula, expresión de la severidad de su afección genética, con severas alteraciones óseas por su fragilidad con fracturas múltiples en huesos largos y vértebras.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Osteogenesis imperfecta is a rare hereditary genetic disease characterized by its heterogeneity caused by connective tissue defects with the feature of bone fragility determining multiple fractures, even prenatal ones; also deformities of long bones and spine, and other extra-skeletal symptoms, such as blue sclerotic, dentinogenesis imperfecta, hearing disorder and cardiovascular affectations.  Objective: To present a patient with clinical and radiological findings of osteogenesis imperfect type III.  Case presentation:  Ecuadorean male child of 4 years old, with a short height, history of multiple fractures from 8 months of age, with spinal deformity demonstrated by radiology due to "S" shaped kyphoscoliosis and vertebral fractures, with progressive deformity in long bones. The boy has suffered 16 fractures, he does not wander, and he is sensory present, oriented in time and space, with normal cognitive development for his age. The bone fragility of the child according to the phenotype classifies in the type III diagnosis of osteogenesis imperfecta, which is progressive and invalidating due to bone deformities and multiple fractures evidenced in imaging tests, without changes in the color of sclerotics and of presumably dominant inheritance.  Conclusions:  The clinical and radiological description of osteogenesis imperfecta, which is little-known pathology, corresponding to type III phenotype is reported in a 4-year-old boy who, due to his involvement, has a short height and does not wander as a consequence of the severity of bone affectations with fractures in long bones and vertebrae, mainly produced by the fragility of the bones due to his genetic disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[osteogénesis imperfecta]]></kwd>
<kwd lng="es"><![CDATA[fracturas múltiples]]></kwd>
<kwd lng="es"><![CDATA[fragilidad ósea]]></kwd>
<kwd lng="es"><![CDATA[enfermedad rara]]></kwd>
<kwd lng="en"><![CDATA[osteogenesis imperfecta]]></kwd>
<kwd lng="en"><![CDATA[multiple fractures]]></kwd>
<kwd lng="en"><![CDATA[bone fragility, rare disease]]></kwd>
</kwd-group>
</article-meta>
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