<?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>S1665-11462023000700023</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.22000075</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Joubert syndrome: a case report of neonatal presentation and early diagnosis]]></article-title>
<article-title xml:lang="es"><![CDATA[Síndrome de Joubert: reporte de caso de presentación neonatal y diagnóstico temprano]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Gordillo]]></surname>
<given-names><![CDATA[Carla I.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orozco-Soto]]></surname>
<given-names><![CDATA[Leslie E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Osegueda-Mayen]]></surname>
<given-names><![CDATA[Juan R.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nava-Tapia]]></surname>
<given-names><![CDATA[Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martinez-Monreal]]></surname>
<given-names><![CDATA[Dario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Médico ABC Unidad de Neonatología ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Ángeles Universidad Unidad de Genética Médica ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Hospital General Regional No. 270 Unidad de Imagenología]]></institution>
<addr-line><![CDATA[Reynosa Tamaulipas]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>80</volume>
<fpage>23</fpage>
<lpage>27</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462023000700023&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462023000700023&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462023000700023&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000&#8211;1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment.  Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome.  Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo.  Caso clínico: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert.  Conclusiones: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Tachypnea]]></kwd>
<kwd lng="en"><![CDATA[Apnea]]></kwd>
<kwd lng="en"><![CDATA[Joubert syndrome]]></kwd>
<kwd lng="en"><![CDATA[Genetic diseases]]></kwd>
<kwd lng="es"><![CDATA[Taquipnea]]></kwd>
<kwd lng="es"><![CDATA[Apnea]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Joubert]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad genética]]></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[Ahmetgjekaj]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Rahman]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hyseni]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Guy]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Madani]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Saliaj]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A case report of Joubert syndrome with renal involvement and seizures in a neonate]]></article-title>
<source><![CDATA[Radiol Case Rep]]></source>
<year>2021</year>
<volume>16</volume>
<page-range>1075-9</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[Parisi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Glass]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[Joubert Syndrome]]></source>
<year></year>
<publisher-loc><![CDATA[Seattle (WA) ]]></publisher-loc>
<publisher-name><![CDATA[University of Washington, Seattle;1993-2022]]></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[Chaki]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Airik]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Ghosh]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
<name>
<surname><![CDATA[Giles]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Slaats]]></surname>
<given-names><![CDATA[GG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling]]></article-title>
<source><![CDATA[Cell]]></source>
<year>2012</year>
<volume>150</volume>
<page-range>533-48</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[Bachmann-Gagescu]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Phelps]]></surname>
<given-names><![CDATA[IG]]></given-names>
</name>
<name>
<surname><![CDATA[Dempsey]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Sharma]]></surname>
<given-names><![CDATA[VA]]></given-names>
</name>
<name>
<surname><![CDATA[Ishak]]></surname>
<given-names><![CDATA[GE]]></given-names>
</name>
<name>
<surname><![CDATA[Boyle]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[KIAA0586 is mutated in Joubert syndrome]]></article-title>
<source><![CDATA[Hum Mutat]]></source>
<year>2015</year>
<volume>36</volume>
<page-range>831-5</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[Hua]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Bourgeois]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Ferland]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome]]></article-title>
<source><![CDATA[In:Reference Module in Neuroscience and Biobehavioral Psychology]]></source>
<year>2017</year>
<publisher-loc><![CDATA[Albania ]]></publisher-loc>
<publisher-name><![CDATA[Albany Medical College]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cintora]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Suárez]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Álvarez]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
<name>
<surname><![CDATA[Aguado]]></surname>
<given-names><![CDATA[IC]]></given-names>
</name>
<name>
<surname><![CDATA[Pascual]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Lobato]]></surname>
<given-names><![CDATA[ES]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Joubert]]></article-title>
<source><![CDATA[Rev Pediatr Aten Primaria]]></source>
<year>2021</year>
<volume>23</volume>
<page-range>191-4</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[Phelps]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Dempsey]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Grout]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Isabella]]></surname>
<given-names><![CDATA[CR]]></given-names>
</name>
<name>
<surname><![CDATA[Tully]]></surname>
<given-names><![CDATA[HM]]></given-names>
</name>
<name>
<surname><![CDATA[Doherty]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Interpreting the clinical significance of combined variants in multiple recessive disease genes:systematic investigation of Joubert syndrome yields little support for oligogenicity]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2018</year>
<volume>20</volume>
<page-range>223-33</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[Negreros-Osuna]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Sánchez-Montaño]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Morales-Sánchez]]></surname>
<given-names><![CDATA[FF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Joubert:reporte de caso y revisión de la bibliografía]]></article-title>
<source><![CDATA[An Radiol Mex]]></source>
<year>2017</year>
<volume>16</volume>
<page-range>66-71</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[Tammana]]></surname>
<given-names><![CDATA[TV]]></given-names>
</name>
<name>
<surname><![CDATA[Tammana]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Diener]]></surname>
<given-names><![CDATA[DR]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenbaum]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly]]></article-title>
<source><![CDATA[J Cell Sci]]></source>
<year>2013</year>
<volume>126</volume>
<page-range>5018-29</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="book">
<collab>OMIM:Online Mendelian Inheritance in Man</collab>
<source><![CDATA[Online Catalog of Human Genes and Genetic Disorders]]></source>
<year>2022</year>
<publisher-loc><![CDATA[Baltimore ]]></publisher-loc>
<publisher-name><![CDATA[Johns Hopkins University]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kroes]]></surname>
<given-names><![CDATA[HY]]></given-names>
</name>
<name>
<surname><![CDATA[Monroe]]></surname>
<given-names><![CDATA[GR]]></given-names>
</name>
<name>
<surname><![CDATA[van der Zwaag]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Duran]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[de Kovel]]></surname>
<given-names><![CDATA[CG]]></given-names>
</name>
<name>
<surname><![CDATA[van Roosmalen]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome:genotyping a Northern European patient cohort]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2016</year>
<volume>24</volume>
<page-range>214-20</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[Zhu]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Xie]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal diagnosis of Joubert syndrome:a case report and literature review]]></article-title>
<source><![CDATA[Medicine (Baltimore)]]></source>
<year>2017</year>
<volume>96</volume>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alvarez-Sanz]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Cabanillas-Burgos]]></surname>
<given-names><![CDATA[LY]]></given-names>
</name>
<name>
<surname><![CDATA[Huamani-Condori]]></surname>
<given-names><![CDATA[XP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico:reporte de un caso]]></article-title>
<source><![CDATA[Rev Neuropsiquiatr]]></source>
<year>2017</year>
<volume>80</volume>
<page-range>75-9</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nuovo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bacigalupo]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Ginevrino]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Battini]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bertini]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Borgatti]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Age and sex prevalence estimate of Joubert syndrome in Italy]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2020</year>
<volume>94</volume>
<page-range>801</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Romani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Micalizzi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Valente]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome:congenital cerebellar ataxia with the molar tooth]]></article-title>
<source><![CDATA[Lancet Neurol]]></source>
<year>2013</year>
<volume>12</volume>
<page-range>894-905</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bachmann-Gagescu]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Dempsey]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Phelps]]></surname>
<given-names><![CDATA[IG]]></given-names>
</name>
<name>
<surname><![CDATA[O'Roak]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[Knutzen]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
<name>
<surname><![CDATA[Rue]]></surname>
<given-names><![CDATA[TC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome:a model for untangling recessive disorders with extreme genetic heterogeneity]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2015</year>
<volume>52</volume>
<page-range>514-22</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Elhassanien]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Alghaiaty]]></surname>
<given-names><![CDATA[HA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome:clinical and radiological characteristics of nine patients]]></article-title>
<source><![CDATA[Ann Indian Acad Neurol]]></source>
<year>2013</year>
<volume>16</volume>
<page-range>239-44</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Akcakus]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gunes]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Kumandas]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kurtoglu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Coskun]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joubert syndrome:report of a neonatal case]]></article-title>
<source><![CDATA[Paediatr Child Health]]></source>
<year>2003</year>
<volume>8</volume>
<page-range>499-502</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
