<?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>2182-5173</journal-id>
<journal-title><![CDATA[Revista Portuguesa de Medicina Geral e Familiar]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Port Med Geral Fam]]></abbrev-journal-title>
<issn>2182-5173</issn>
<publisher>
<publisher-name><![CDATA[Associação Portuguesa de Medicina Geral e Familiar]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2182-51732024000400384</article-id>
<article-id pub-id-type="doi">10.32385/rpmgf.v40i4.13562</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Síndroma de Saethre-Chotzen: relato de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Saethre-Chotzen syndrome: a case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Azevedo]]></surname>
<given-names><![CDATA[Patrícia de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Costa]]></surname>
<given-names><![CDATA[Tiago Francisco Cunha]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pinheiro]]></surname>
<given-names><![CDATA[Luís]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[Maria Alcina Bastos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,ACeS Tâmega III - Vale do Sousa Norte USF Hygeia ]]></institution>
<addr-line><![CDATA[Lixa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,ACeS Tâmega III - Vale do Sousa Norte USF Hygeia ]]></institution>
<addr-line><![CDATA[Lixa ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<volume>40</volume>
<numero>4</numero>
<fpage>384</fpage>
<lpage>386</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2182-51732024000400384&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2182-51732024000400384&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2182-51732024000400384&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução:  O síndroma de Saethre-Chotzen é uma doença genética rara que se caracteriza por deformidades faciais e cranianas. Este relato de caso pretende alertar para os sinais que caracterizam a doença e para a importância do médico de família na gestão dos cuidados de saúde destes doentes e das suas famílias.  Descrição do caso:  ADTG, sexo masculino, 4 anos. Gravidez vigiada nos cuidados de saúde primários, sem intercorrências. Nascimento com Apgar 5/10/10, com necessidade de ventilação assistida. Foi observado na primeira consulta de vigilância nos cuidados de saúde primários, aos 15 dias de vida, objetivando-se assimetria facial e ocular, tendo sido referenciado a consulta de pediatria para estudo. Após observação e confirmação das alterações no exame físico foi referenciado a consulta de genética médica, onde se confirmou a mutação genética do síndroma de Saethre-Chotzen.  Comentário:  As doenças raras requerem uma gestão complexa dos cuidados de saúde prestados. A realização de consultas de vigilância no âmbito da medicina geral e familiar é fundamental, considerando os autores que este caso reflete competências do médico de família, nomeadamente de gestão de cuidados de saúde primários, e evidencia o seu papel como o primeiro ponto de contacto na prestação de cuidados.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Saethre-Chotzen syndrome is a rare genetic disease characterized by facial and cranial deformities. This case report intends to alert to the signs that describe the disease and the importance of the family doctor in the health care management of these patients and their families.  Case description:  ADTG, male, 4 years old. Surveillanced pregnancy in primary health care, without complications. Birth with Apgar 5/10/10 requiring assisted ventilation. In the first surveillance appointment in primary health care, it was observed that at 15 days of life, there was a facial and ocular asymmetry, having been referred to a pediatric appointment for study. After observation and confirmation of the changes in the physical examination, he was referred to a medical genetics appointment, where the genetic mutation of Saethre-Chotzen syndrome was confirmed.  Commentary:  Rare diseases require complex management of the health care provided. Conducting surveillance appointments within the scope of general and family medicine is therefore essential, considering the authors that this case reflects the family doctor&#8217;s competences, namely in the management of primary health care, and highlights its role as the first point of contact in providing care.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Síndroma de Saethre-Chotzen]]></kwd>
<kwd lng="pt"><![CDATA[Caso clínico]]></kwd>
<kwd lng="pt"><![CDATA[Cuidados de saúde primários]]></kwd>
<kwd lng="en"><![CDATA[Saethre-Chotzen syndrome]]></kwd>
<kwd lng="en"><![CDATA[Case report]]></kwd>
<kwd lng="en"><![CDATA[Primary health care]]></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[Abulezz]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
<name>
<surname><![CDATA[Allam]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
<name>
<surname><![CDATA[Wan]]></surname>
<given-names><![CDATA[DC]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Kawamoto]]></surname>
<given-names><![CDATA[HK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Saethre-Chotzen syndrome a report of 7 patients and review of the literature]]></article-title>
<source><![CDATA[Ann Plast Surg]]></source>
<year>2020</year>
<volume>85</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>251-5</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gallagher]]></surname>
<given-names><![CDATA[ER]]></given-names>
</name>
<name>
<surname><![CDATA[Ratisoontorn]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Cunningham]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Feldman]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mirzaa]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
</person-group>
<source><![CDATA[Saethre-Chotzen syndrome]]></source>
<year>2003</year>
<publisher-loc><![CDATA[Seattle ]]></publisher-loc>
<publisher-name><![CDATA[University of Washington]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Junn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Dinis]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Forte]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Mozaffari]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Phillips]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Facial dysmorphology in Saethre-Chotzen syndrome]]></article-title>
<source><![CDATA[J Craniofac Surg]]></source>
<year>2021</year>
<volume>32</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>2660-5</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[Díez de Los Ríos Quintanero]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Gracia Rojas]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Ortiz Movilla]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Cabrejas Núñez]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Marín Gabriel]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Saethre-Chotzen: a propósito de un caso]]></article-title>
<source><![CDATA[Arch Argent Pediatr]]></source>
<year>2021</year>
<volume>119</volume>
<numero>2</numero>
<issue>2</issue>
</nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cai]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Goodman]]></surname>
<given-names><![CDATA[BK]]></given-names>
</name>
<name>
<surname><![CDATA[Patel]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Mulliken]]></surname>
<given-names><![CDATA[JB]]></given-names>
</name>
<name>
<surname><![CDATA[Van Maldergem]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Hoganson]]></surname>
<given-names><![CDATA[GE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions an improved strategy for TWIST mutation screening]]></article-title>
<source><![CDATA[Hum Genet]]></source>
<year>2003</year>
<volume>114</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>68-76</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[Alawneh]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[AL]]></given-names>
</name>
<name>
<surname><![CDATA[Hoover-Fong]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Jackson]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
<name>
<surname><![CDATA[Steinberg]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[MacCarrick]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Postnatal progressive craniosynostosis in syndromic conditions two patients with Saethre-Chotzen due to TWIST1 gene deletions and review of the literature]]></article-title>
<source><![CDATA[Cleft Palate Craniofac J]]></source>
<year>2023</year>
<volume>60</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>1021-8</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
