<?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>0034-7507</journal-id>
<journal-title><![CDATA[Revista Cubana de Estomatología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Estomatol]]></abbrev-journal-title>
<issn>0034-7507</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75072020000400013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome Nance-Horan, cataratas congénitas y anomalías dentales]]></article-title>
<article-title xml:lang="en"><![CDATA[Nance-Horan syndrome, congenital cataracts and dental anomalies]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez Díaz]]></surname>
<given-names><![CDATA[Ana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pérez Alfonso]]></surname>
<given-names><![CDATA[Aida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Taboada Lugo]]></surname>
<given-names><![CDATA[Noel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Toledo Pimentel]]></surname>
<given-names><![CDATA[Bárbara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Villa Clara Facultad de Estomatología Departamento de Estomatología General Integral]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de Villa Clara Facultad de Estomatología Departamento de Ortodoncia]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Ciencias Médicas de Villa Clara Facultad de Medicina Departamento de Genética Clínica]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Ciencias Médicas de Villa Clara Facultad de Estomatología Departamento de Periodoncia]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<volume>57</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75072020000400013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75072020000400013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75072020000400013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La presencia de estructuras dentofaciales atípicas puede ser el primer indicador de otros defectos congénitos relacionados con síndromes también de origen genético. El síndrome Nance-Horan es un trastorno monogénico ligado al cromosoma X, caracterizado fenotípicamente por alteraciones dismorfológicas dentales y craneofaciales distintivas, cataratas congénitas y déficit cognitivo.  Objetivo: Describir un caso inusual de anomalías dentarias en el curso del síndrome Nance-Horan.  Presentación de caso: Paciente de 13 años de edad, masculino, de piel blanca. Al examen clínico se constató un patrón dismórfico dado por facies alargada y estrecha, orejas prominentes con anteversión de la aurícula, nariz grande con puente nasal alto, diastema generalizado en ambas arcadas, todos los dientes con anomalías de forma y microdónticos. En el estudio radiológico periapical se constataron raíces cortas y cámaras pulpares amplias. Los antecedentes patológicos personales de nuestro paciente, el patrón dismórfico cráneo facial y las radiografías coinciden con características de otros casos de síndrome Nance-Horan reportados en la literatura. La mutación del gen síndrome Nance-Horan se expresa completamente solo en los varones. Como los varones son hemicigóticos para los genes ligados al cromosoma X, basta con una copia del alelo mutado para que aparezca una enfermedad de herencia recesiva ligada al sexo.  Conclusiones: Se evidenció que es de crucial importancia realizar un cuidadoso examen, tanto clínico como radiográfico, de los pacientes con anomalías dentales. Se insiste en el trabajo mancomunado entre diferentes disciplinas y especialidades, tanto médicas como estomatológicas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: The presence of atypical dentofacial structures may be the first indicator of other congenital defects related to syndromes of likewise genetic origin. Nance-Horan syndrome is a monogenic X linked disorder phenotypically characterized by distinctive dysmorphic dental and craniofacial alterations, congenital cataracts and cognitive deficit.  Objective: Describe an unusual case of dental anomalies in the course of Nance-Horan syndrome.  Case presentation: A case is presented of a white male 13-year-old patient. Clinical examination revealed a dysmorphic pattern characterized by long narrow facies, prominent ears with auricular anteversion, a big nose with a high nasal bridge, generalized diastema in both arches, and all the teeth microdontic and abnormally shaped. Periapical radiological examination found short roots and broad pulp chambers. The personal pathological antecedents of the patient, the dysmorphic craniofacial pattern and the radiographs correspond to characteristics of other cases of Nance-Horan syndrome reported in the literature. Mutation of the Nance-Horan syndrome gene is completely expressed only in males. Since males are hemizygous for X linked genes, one copy of the mutated allele is sufficient for the appearance of a sex-linked recessive inheritance disease.  Conclusions: Evidence was found of the crucial importance of conducting careful examination, both clinical and radiographic, of patients with dental anomalies. Emphasis is placed on the joint work of various disciplines and specialties, both medical and dental.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[anomalías congénitas]]></kwd>
<kwd lng="es"><![CDATA[defectos congénitos]]></kwd>
<kwd lng="es"><![CDATA[anomalías dentarias]]></kwd>
<kwd lng="es"><![CDATA[catarata]]></kwd>
<kwd lng="es"><![CDATA[reporte de caso]]></kwd>
<kwd lng="en"><![CDATA[congenital anomalies]]></kwd>
<kwd lng="en"><![CDATA[congenital defects]]></kwd>
<kwd lng="en"><![CDATA[dental anomalies]]></kwd>
<kwd lng="en"><![CDATA[cataract]]></kwd>
<kwd lng="en"><![CDATA[case report]]></kwd>
</kwd-group>
</article-meta>
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