<?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>S0872-07542024000400288</article-id>
<article-id pub-id-type="doi">10.25753/birthgrowthmj.v33.i4.33195</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Wieacker-Wolff syndrome - A rare X-linked hereditary disorder]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome Wieacker-Wolff - Uma doença rara de hereditariedade ligada ao X]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dias]]></surname>
<given-names><![CDATA[João Faria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martins]]></surname>
<given-names><![CDATA[Cecília]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soares]]></surname>
<given-names><![CDATA[Ana Rita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gonçalves-Rocha]]></surname>
<given-names><![CDATA[Alexandra M]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Felisbela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Unidade Local de Saúde do Médio Ave Department of Pediatrics and Neonatology ]]></institution>
<addr-line><![CDATA[Vila Nova de Famalicão ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Unidade Local de Saúde de Matosinhos Department of Pediatrics, Hospital de Pedro Hispano Neurodevelopment Unit]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital de Braga Medical Genetics Unit ]]></institution>
<addr-line><![CDATA[Braga ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Unidade Local de Saúde de Santo António Genetics and Pathology Clinic ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>33</volume>
<numero>4</numero>
<fpage>288</fpage>
<lpage>291</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542024000400288&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542024000400288&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542024000400288&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Wieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems. The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infections. Physical examination revealed a long and flat philtrum, low-set ears, arched palate, and a carp-shaped mouth. The child currently has intellectual disability, epilepsy, and lower limb spasticity. Clinical exome sequencing revealed the presence of a mutation in the ZC4H2 gene, confirming the diagnosis of WWS, a rare condition. With this case, the authors intend to highlight the importance of evaluating early signs of musculoskeletal deformities and hypotonia in the first months of life. Besides confirming the etiologic diagnosis, the genetic study allows to anticipate associated conditions, tailor interventions, and provide family counseling.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A síndrome de Wieacker-Wolff tem hereditariedade ligada ao X e é causada por uma mutação patogénica no gene ZC4H2, apresentando envolvimento do sistema nervoso central e periférico. É descrito o caso de um rapaz de seis anos de idade seguido desde os quatro meses por atraso global do desenvolvimento psicomotor, com marcada hipotonia axial. O rapaz tinha antecedentes pessoais de pé boto bilateral, dificuldades alimentares e infeções respiratórias recorrentes. O exame objetivo revelou filtro longo e plano, orelhas de implantação baixa, palato arqueado, boca em forma de carpa e hipotonia axial. A criança apresenta atualmente perturbação do desenvolvimento intelectual, epilepsia e espasticidade dos membros inferiores. A sequenciação do exoma revelou a presença de mutação no gene ZC4H2, confirmando o diagnóstico de síndrome de Wieacker-Wolff, uma condição rara. Com este caso, os autores pretendem alertar para a necessidade de valorizar sinais precoces de alterações musculoesqueléticas e hipotonia nos primeiros meses de vida. O estudo genético permite fazer o diagnóstico etiológico desta entidade, antecipar condições associadas e fornecer aconselhamento familiar.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[arthrogryposis]]></kwd>
<kwd lng="en"><![CDATA[hypotonia]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[Wieacker-Wolff syndrome]]></kwd>
<kwd lng="en"><![CDATA[ZC4H2 gene]]></kwd>
<kwd lng="pt"><![CDATA[artrogripose]]></kwd>
<kwd lng="pt"><![CDATA[hipotonia]]></kwd>
<kwd lng="pt"><![CDATA[gene ZC4H2]]></kwd>
<kwd lng="pt"><![CDATA[perturbação do desenvolvimento intelectual]]></kwd>
<kwd lng="pt"><![CDATA[síndrome de Wieacker-Wolff]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wieacker]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Wolff]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Wienker]]></surname>
<given-names><![CDATA[TF]]></given-names>
</name>
<name>
<surname><![CDATA[Sauer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia]]></article-title>
<source><![CDATA[American journal of medical genetics]]></source>
<year>1985</year>
<volume>20</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>597-606</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="">
<collab>Orphanet</collab>
<source><![CDATA[an online database of rare diseases and orphan drugs.]]></source>
<year>1997</year>
</nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="">
<collab>National Organization for Rare Disorders</collab>
<source><![CDATA[ZC4H2-Associated Rare Disorders (ZARD)]]></source>
<year>2022</year>
</nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Frints]]></surname>
<given-names><![CDATA[SGM]]></given-names>
</name>
<name>
<surname><![CDATA[Hennig]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Colombo]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Jacquemont]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Terhal]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita]]></article-title>
<source><![CDATA[Human mutation]]></source>
<year>2019</year>
<volume>40</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>2270-85</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[Kloos]]></surname>
<given-names><![CDATA[DU]]></given-names>
</name>
<name>
<surname><![CDATA[Jakubiczka]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wienker]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Wolff]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Wieacker]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome]]></article-title>
<source><![CDATA[Human Genetics]]></source>
<year>1997</year>
<volume>100</volume>
<page-range>426-30</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[Hirata]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Nanda]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[van Riesen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[McMichael]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hambrock]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity]]></article-title>
<source><![CDATA[American journal of human genetics]]></source>
<year>2013</year>
<volume>92</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>681-95</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="">
<collab>Online Mendelian Inheritance in Man, OMIM(r)</collab>
<source><![CDATA[McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD),]]></source>
<year>2022</year>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hirata]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Nanda]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[van Riesen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[McMichael]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hambrock]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity]]></article-title>
<source><![CDATA[American journal of human genetics]]></source>
<year>2013</year>
<volume>92</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>681-95</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Guo]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome]]></article-title>
<source><![CDATA[Molecular genetics &amp; genomic medicine]]></source>
<year>2020</year>
<volume>8</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>1100</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[May]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hwang]]></surname>
<given-names><![CDATA[K-S]]></given-names>
</name>
<name>
<surname><![CDATA[Miles]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Williams]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Niranjan]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Kahler]]></surname>
<given-names><![CDATA[SG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons Hum. Molec]]></article-title>
<source><![CDATA[Genet]]></source>
<year>2015</year>
<volume>24</volume>
<page-range>4848-61</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Okubo]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Endo]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Inui]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Suzuki-Muromoto]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Miyabayashi]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Togashi]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation]]></article-title>
<source><![CDATA[Brain Dev]]></source>
<year>2018</year>
<volume>40</volume>
<page-range>334-8</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zanzottera]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Milani]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Alfei]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Rizzo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[D&amp;apos;Arrigo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Esposito]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ZC4H2 deletions can cause severe phenotype in female carriers Am. J. Med]]></article-title>
<source><![CDATA[Genet]]></source>
<year>2017</year>
<volume>173</volume>
<numero>A</numero>
<issue>A</issue>
<page-range>1358-63</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Deneufbourg]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Duquenne]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Biard]]></surname>
<given-names><![CDATA[J-M]]></given-names>
</name>
<name>
<surname><![CDATA[Sznajer]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a &amp;raquo;,» &amp;reg;,® &amp;sect;,§ &amp;shy;,­ &amp;sup1;,¹ &amp;sup2;,² &amp;sup3;,³ &amp;szlig;,ß &amp;THORN;,Þ &amp;thorn;,þ &amp;times;,× &amp;Uacute;,Ú &amp;uacute;,ú &amp;Ucirc;,Û &amp;ucirc;,û &amp;Ugrave;,Ù &amp;ugrave;,ù &amp;uml;,¨ &amp;Uuml;,Ü &amp;uuml;,ü &amp;Yacute;,Ý &amp;yacute;,ý &amp;yen;,¥ &amp;yuml;,ÿ &amp;para;,¶ de novo &amp;raquo;,» &amp;reg;,® &amp;sect;,§ &amp;shy;,­ &amp;sup1;,¹ &amp;sup2;,² &amp;sup3;,³ &amp;szlig;,ß &amp;THORN;,Þ &amp;thorn;,þ &amp;times;,× &amp;Uacute;,Ú &amp;uacute;,ú &amp;Ucirc;,Û &amp;ucirc;,û &amp;Ugrave;,Ù &amp;ugrave;,ù &amp;uml;,¨ &amp;Uuml;,Ü &amp;uuml;,ü &amp;Yacute;,Ý &amp;yacute;,ý &amp;yen;,¥ &amp;yuml;,ÿ &amp;para;,¶ ZC4H2 gene partial deletion]]></article-title>
<source><![CDATA[Clin Case Rep]]></source>
<year>2021</year>
<volume>9</volume>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
