<?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>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322021000100015</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Displasia torácica asfixiante]]></article-title>
<article-title xml:lang="en"><![CDATA[Suffocating thoracic dysplasia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Barrionuevo]]></surname>
<given-names><![CDATA[Claudia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Márquez Mira]]></surname>
<given-names><![CDATA[Pedro Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Croche Santander]]></surname>
<given-names><![CDATA[Borja]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López Díaz]]></surname>
<given-names><![CDATA[Román Jesús]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Juan Ramón Jiménez Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Huelva ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Juan Ramón Jiménez Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Huelva ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro de Salud San Juan del Puerto  ]]></institution>
<addr-line><![CDATA[Huelva ]]></addr-line>
<country>España</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>23</volume>
<numero>89</numero>
<fpage>91</fpage>
<lpage>94</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322021000100015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322021000100015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322021000100015&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[ Resumen El síndrome de Jeune o displasia torácica asfixiante es una enfermedad genética de herencia autosómica recesiva, que se caracteriza por presentar un fenotipo característico. El diagnóstico es clínico y radiológico. Se han descrito mutaciones en genes (IFT80, DYNC2H1, WDR19, IFT140 y TTC21B) que codifican proteínas de transporte intraflagelares responsables de la enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Abstract Jeune syndrome or suffocating thoracic dysplasia is a genetic disease with autosomal recessive inheritance, characterized by presenting a quirky phenotype. The diagnosis is clinical-radiological. Mutations in genes IFT80, DYNC2H1, WDR19, IFT140 and TTC21B that encode intraflagellar transport proteins responsible for the disease have been described.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Malformación congénita]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Jeune]]></kwd>
<kwd lng="en"><![CDATA[Congenital malformation]]></kwd>
<kwd lng="en"><![CDATA[Jeune syndrome]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="book">
<source><![CDATA[Sindrome de Jeune]]></source>
<year></year>
<publisher-name><![CDATA[Orphanet]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Díaz]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Madrid]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[León]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Displasia torácica asfixiante o síndrome de Jeune]]></article-title>
<source><![CDATA[Rev Chile Obst Ginecol]]></source>
<year>2003</year>
<volume>68</volume>
<page-range>322-6</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dagoneau]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[DYNC2H1 gene mutations cause asphyxiating thoracic dystrophy and short ribs and polydactyly (SRPS acronym in English) type III syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2009</year>
<volume>84</volume>
<page-range>706-11</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[De Vries]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Jeune syndrome: description of 13 cases. Monitoring Protocol.]]></article-title>
<source><![CDATA[Eur J Pediatr]]></source>
<year>2010</year>
<volume>169</volume>
<page-range>77-88</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morgan]]></surname>
<given-names><![CDATA[NV]]></given-names>
</name>
<name>
<surname><![CDATA[Bacchelli]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Gissen]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2003</year>
<volume>40</volume>
<page-range>431-5</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Keppler-Noreuil]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Welch]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Muilenburg]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Willing]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2011</year>
<volume>155</volume>
<page-range>1021-32</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Poyner]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Bradshaw]]></surname>
<given-names><![CDATA[WT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy]]></article-title>
<source><![CDATA[Neonatal Netw]]></source>
<year>2013</year>
<volume>32</volume>
<page-range>342-52</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Casteels]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Demandt]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Legius]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Visual loss as a presenting sign of Jeune syndrome]]></article-title>
<source><![CDATA[Eur J Paediatr Neurol]]></source>
<year>2000</year>
<volume>4</volume>
<page-range>243-7</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
