<?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>1608-8921</journal-id>
<journal-title><![CDATA[Gaceta Médica Espirituana]]></journal-title>
<abbrev-journal-title><![CDATA[Gac Méd Espirit]]></abbrev-journal-title>
<issn>1608-8921</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Sancti Spíritus]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1608-89212020000200111</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Discondrosteosis de Léri-Weill. Presentación de una familia afectada]]></article-title>
<article-title xml:lang="en"><![CDATA[Léri-Weill dyschondrosteosis. Presentation of an affected family]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santana Hernández]]></surname>
<given-names><![CDATA[Elayne Esther]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González Anta]]></surname>
<given-names><![CDATA[Ana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética Médica  ]]></institution>
<addr-line><![CDATA[Holguín ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas  ]]></institution>
<addr-line><![CDATA[Holguín ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2020</year>
</pub-date>
<volume>22</volume>
<numero>2</numero>
<fpage>111</fpage>
<lpage>119</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1608-89212020000200111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1608-89212020000200111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1608-89212020000200111&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamentación:  La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia.  Objetivo:  Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia.  Presentación de caso:  Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia.  Conclusiones:  El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance.  Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family.  Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics.  Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Discondrosteosis]]></kwd>
<kwd lng="es"><![CDATA[enfermedad de Léri-Weill]]></kwd>
<kwd lng="es"><![CDATA[deformación de Madelung]]></kwd>
<kwd lng="es"><![CDATA[enanismo mesomélico]]></kwd>
<kwd lng="es"><![CDATA[lipomatosis simétrica múltiple/genética]]></kwd>
<kwd lng="es"><![CDATA[displasia fibrosa ósea/genética]]></kwd>
<kwd lng="es"><![CDATA[acortamiento mesomélico]]></kwd>
<kwd lng="es"><![CDATA[baja talla origen genético]]></kwd>
<kwd lng="es"><![CDATA[deformidades congénitas de las extremidades superiores/genética]]></kwd>
<kwd lng="es"><![CDATA[antebrazo/anomalías]]></kwd>
<kwd lng="es"><![CDATA[muñeca/anomalías]]></kwd>
<kwd lng="en"><![CDATA[Dyschondrosteosis]]></kwd>
<kwd lng="en"><![CDATA[Léri-Weill disease]]></kwd>
<kwd lng="en"><![CDATA[Madelung deformation]]></kwd>
<kwd lng="en"><![CDATA[mesomelic dwarfism]]></kwd>
<kwd lng="en"><![CDATA[lipomatosis]]></kwd>
<kwd lng="en"><![CDATA[multiple symmetrical/genetics]]></kwd>
<kwd lng="en"><![CDATA[fibrous dysplasia of bone/genetics]]></kwd>
<kwd lng="en"><![CDATA[mesomélico shortening]]></kwd>
<kwd lng="en"><![CDATA[low size genetic origin]]></kwd>
<kwd lng="en"><![CDATA[upper extremity deformities congenital/genetics]]></kwd>
<kwd lng="en"><![CDATA[forearm/abnormalities]]></kwd>
<kwd lng="en"><![CDATA[wrist/abnormalities]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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