<?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>2221-2434</journal-id>
<journal-title><![CDATA[Revista Finlay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Finlay]]></abbrev-journal-title>
<issn>2221-2434</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos. Centro Provincial de información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2221-24342021000100004</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedades esqueléticas de causa genética: experiencia en un servicio de referencia nacional]]></article-title>
<article-title xml:lang="en"><![CDATA[Skeletal Diseases of Genetic Cause: Experience in a National Reference Service]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Peralta]]></surname>
<given-names><![CDATA[Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Huertas Pérez]]></surname>
<given-names><![CDATA[Gretell]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Facultad de Ciencias Médicas 10 de Octubre  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<volume>11</volume>
<numero>1</numero>
<fpage>4</fpage>
<lpage>9</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2221-24342021000100004&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2221-24342021000100004&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2221-24342021000100004&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento:  las enfermedades esqueléticas de causa genética son un grupo heterogéneo de afecciones del crecimiento y desarrollo del hueso y el cartílago que incluye más de 350 entidades. El incremento de su conocimiento ha conllevado a que su nomenclatura haya sido revisada por expertos en varias ocasiones.  Objetivo:  analizar aspectos de la clasificación actual de las enfermedades esqueléticas de causa genética, teniendo en cuenta el diagnóstico de los pacientes atendidos en el Servicio de referencia nacional de Genética Clínica.  Métodos:  se realizó un estudio descriptivo, retrospectivo, por medio de revisión documental de los datos inscritos entre septiembre de 1984 y diciembre del 2019 en el Servicio de Genética Clínica del Hospital Pediátrico de Centro Habana. Fueron incluidos 225 casos con evidencias clínicas de enfermedades esqueléticas. Se aplicó el método clínico estandarizado en la red de genética. El diagnóstico se realizó utilizando el método comparativo. Las enfermedades identificadas se contrastaron con las incluidas en la clasificación descrita en el 2010.  Resultados: se identificó en 190 pacientes enfermedades esqueléticas específicas, las más frecuentes halladas fueron: el síndrome Ehlers-Danlos (n=19; 10 %), la acondroplasia (n=18; 9,4 %) y el síndrome de Marfán (n=17; 8,9 %). De los 40 grupos incluidos en la clasificación analizada, el de mayor número fue el que se correspondía con el sobrecrecimiento. Se halló un paciente con síndrome Wildervanck y un caso con hipoplasia glútea con sinbraquidactilia ipsilateral de miembro inferior, estas enfermedades no están listadas en la clasificación actual.  Conclusión: la clasificación actual de las enfermedades óseas genéticas es producto del conocimiento humano y deberá estar sujeta a cambios.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background:  skeletal diseases of genetic cause are a heterogeneous group of disorders of the growth, development of bone and cartilage that includes more than 350 entities. The increase in its knowledge has meant that experts have reviewed its nomenclature on several occasions.  Objective:  to analyze aspects of the current classification the skeletal diseases of genetic cause, taking into account the diagnosis of patients treated in a national reference service of Clinical Genetics.  Methods:  a descriptive, retrospective study, was carried out by means of a documentary review of the data registered between September 1984 and December 2019 in the Clinical Genetics Service of the Centro Habana Pediatric Hospital. 225 cases with clinical evidence of skeletal diseases were included. The standardized clinical method was applied in the genetics network. The diagnosis was made using the comparative method. The diseases identified were contrasted with those included in the classification described in 2010.  Results:  specific skeletal diseases were identified in 190 patients, the most frequent found were Ehlers-Danlos syndrome (n = 19; 10 %), achondroplasia (n = 18; 9.4 %) and Marfan syndrome (n = 17; 8.9 %). Of the 40 groups included in the classification analyzed, the one with the highest number was due to overgrowth. We found a patient with Wildervanck syndrome and a case with gluteal hypoplasia with ipsilateral lower limb synbrachydactyly, these diseases are not listed in the current classification.  Conclusion:  the current classification of genetic bone diseases is the product of human knowledge and should be subject to change.]]></p></abstract>
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<kwd lng="es"><![CDATA[enfermedades del desarrollo óseo]]></kwd>
<kwd lng="es"><![CDATA[enfermedades genéticas congénitas]]></kwd>
<kwd lng="en"><![CDATA[bone diseases development]]></kwd>
<kwd lng="en"><![CDATA[genetic diseases inborn]]></kwd>
</kwd-group>
</article-meta>
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