<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462019000100044</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.18000053</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Clinical and genetic findings of two cases with Apert syndrome]]></article-title>
<article-title xml:lang="es"><![CDATA[Hallazgos clínicos y genéticos de dos casos con síndrome de Apert]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yilmaz]]></surname>
<given-names><![CDATA[Elanur]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Callea]]></surname>
<given-names><![CDATA[Michele]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Avendaño]]></surname>
<given-names><![CDATA[Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[M&#305;hç&#305;]]></surname>
<given-names><![CDATA[Ercan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alper]]></surname>
<given-names><![CDATA[Ozgul M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,University of The Andes Faculty of Medicine Unit of Medical Genetics]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Akdeniz University Department of Medical Biology and Genetics ]]></institution>
<addr-line><![CDATA[Antalya ]]></addr-line>
<country>Turkey</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Bambino Gesù Children&#8217;s Hospital  Unit of Dentistry]]></institution>
<addr-line><![CDATA[Rome ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Akdeniz University Medical School Department of Pediatric Genetics ]]></institution>
<addr-line><![CDATA[Antalya ]]></addr-line>
<country>Turkey</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<volume>76</volume>
<numero>1</numero>
<fpage>44</fpage>
<lpage>48</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462019000100044&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462019000100044&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462019000100044&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype.  Case report:  Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C&gt;G, p.Ser252Trp) in the FGFR2 gene was identified.  Conclusions:  Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  Las craneosinostosis se describen como la fusión prematura de las suturas craneales y resultan un grupo de alteraciones que producen un fenotipo anormal.  Caso clínico:  En este informe de casos se presentan dos pacientes de sexo femenino no emparentadas con hallazgos clínicos del síndrome de Apert, caracterizado por acrocefalia, región frontal prominente, occipucio plano, proptosis ocular, hipertelorismo, fisuras palpebrales hacia abajo, hipoplasia mediofacial, paladar alto o hendido, cuello corto, cardiopatía congénita y sindactilia simétrica en manos y pies. En ambas pacientes se identificó una mutación cambio de sentido en heterocigosis (c.755C&gt;G, p.Ser252Trp) en el gen FGFR2.  Conclusiones:  Se presentan dos casos de síndrome de Apert. Es importante reconocer a través de los hallazgos clínicos esta entidad infrecuente, resaltar la evaluación médica interdisciplinaria y proporcionar un oportuno asesoramiento genético a la familia.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Apert syndrome. Clinical. FGFR2 gene. c.755C&gt;G]]></kwd>
<kwd lng="en"><![CDATA[p.Ser252Trp. Genetic counseling]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Apert. Clínica. Gen FGFR2. c.755C&gt;G]]></kwd>
<kwd lng="es"><![CDATA[p.Ser252Trp. Asesoramiento genético]]></kwd>
</kwd-group>
</article-meta>
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