<?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>0872-0754</journal-id>
<journal-title><![CDATA[Nascer e Crescer]]></journal-title>
<abbrev-journal-title><![CDATA[Nascer e Crescer]]></abbrev-journal-title>
<issn>0872-0754</issn>
<publisher>
<publisher-name><![CDATA[Centro Hospitalar do Porto]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-07542023000300214</article-id>
<article-id pub-id-type="doi">10.25753/birthgrowthmj.v32.i3.25758</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Nijmegen breakage syndrome: The importance of follow-up]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de quebras de Nijmegen: A importância do seguimento]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leite]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lemos]]></surname>
<given-names><![CDATA[Cláudia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dias]]></surname>
<given-names><![CDATA[Rita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Faria]]></surname>
<given-names><![CDATA[Raquel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Marques]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário de Santo António Centro Materno-Infantil do Norte Department of Pediatrics]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário de Santo António Department of Medicine ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar Universitário de Santo António Clinical Immunology Unit ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidade do Porto Unit for Multidisciplinary Research in Biomedicine (UMIB) - ICBAS ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António Department of Pediatrics Infectious Diseases and Immunodeficiencies Unit]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2023</year>
</pub-date>
<volume>32</volume>
<numero>3</numero>
<fpage>214</fpage>
<lpage>216</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542023000300214&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542023000300214&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542023000300214&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A síndrome de quebras de Nijmegen (NBS) é uma doença genética rara que ocorre devido à presença de variantes patogénicas no gene NBN, herdado de forma autossómica recessiva. Esta condição leva à reparação inadequada do DNA e caracteriza-se por imunodeficiência com infeções pulmonares recorrentes, hipersensibilidade à radiação e predisposição para neoplasias, particularmente de origem linfoide. As características fenotípicas principais são a microcefalia grave, que influencia o fenótipo facial, com andar médio da face proeminente e retrognatismo. A perturbação ligeira a moderada do desenvolvimento é frequente e os doentes do sexo feminino geralmente desenvolvem insuficiência ovárica primária. O diagnóstico requer um elevado índice de suspeição e pode ser confirmado por análise genética. São apresentados dois casos de síndrome de quebras de Nijmegen seguidos num hospital terciário.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[immunodeficiency]]></kwd>
<kwd lng="en"><![CDATA[Nijmegen breakage syndrome]]></kwd>
<kwd lng="en"><![CDATA[microcephaly]]></kwd>
<kwd lng="pt"><![CDATA[imunodeficiência]]></kwd>
<kwd lng="pt"><![CDATA[síndrome de quebras de Nijmegen]]></kwd>
<kwd lng="pt"><![CDATA[microcefalia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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