<?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>2306-4102</journal-id>
<journal-title><![CDATA[Acta ortopédica mexicana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta ortop. mex]]></abbrev-journal-title>
<issn>2306-4102</issn>
<publisher>
<publisher-name><![CDATA[Colegio Mexicano de Ortopedia y Traumatología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2306-41022018000500291</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Picnodisostosis familiar, reporte de un caso tras 10 años de seguimiento]]></article-title>
<article-title xml:lang="en"><![CDATA[Family picnodisostosis, report of a case after 10 years of follow-up]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cano-Rodríguez]]></surname>
<given-names><![CDATA[AI]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Seguridad Social del Estado de México y Municipios Ecatepec Centro Médico Servicio de Ortopedia]]></institution>
<addr-line><![CDATA[Estado de México ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<volume>32</volume>
<numero>5</numero>
<fpage>291</fpage>
<lpage>296</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2306-41022018000500291&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2306-41022018000500291&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2306-41022018000500291&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro» y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo.  Objetivo:  Analizar la evolución clínica de los pacientes afectados.  Material y métodos:  Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016.  Resultados:  Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente.  Conclusiones:  El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «bird&#8217;s face» and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term.  Objective:  To analize clinical evolution of these afected patients.  Material and methods:  A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016.  Results:  different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien.  Conclusions:  The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Picnodisostosis]]></kwd>
<kwd lng="es"><![CDATA[catepsina K]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Toulouse-Lautrec]]></kwd>
<kwd lng="en"><![CDATA[Pycnodysostosis]]></kwd>
<kwd lng="en"><![CDATA[cathepsin K]]></kwd>
<kwd lng="en"><![CDATA[Toulouse-Lautrec syndrome]]></kwd>
</kwd-group>
</article-meta>
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