<?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>1029-3019</journal-id>
<journal-title><![CDATA[MEDISAN]]></journal-title>
<abbrev-journal-title><![CDATA[MEDISAN]]></abbrev-journal-title>
<issn>1029-3019</issn>
<publisher>
<publisher-name><![CDATA[Centro Provincial de Información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1029-30192021000200460</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Robinow asociado a insuficiencia renal crónica en fase terminal]]></article-title>
<article-title xml:lang="en"><![CDATA[Robinow syndrome associated with chronic kidney failure in terminal stage]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández Rodríguez]]></surname>
<given-names><![CDATA[Yaribel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sardina Solís]]></surname>
<given-names><![CDATA[Rosa María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Zapata]]></surname>
<given-names><![CDATA[Hubert]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas Hospital Infantil Docente Norte Dr. Juan de la Cruz Martínez Maceira ]]></institution>
<addr-line><![CDATA[Santiago de Cuba ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2021</year>
</pub-date>
<volume>25</volume>
<numero>2</numero>
<fpage>460</fpage>
<lpage>469</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1029-30192021000200460&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1029-30192021000200460&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1029-30192021000200460&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Se describe el caso clínico de un adolescente de 18 años con antecedente patológico de una operación por hipertelorismo en su primer año de vida, quien fue asistido en el Servicio de Nefrología del Hospital Infantil Docente Norte Dr. Juan de la Cruz Martínez Maceira de Santiago de Cuba, debido a una disminución marcada de la función renal, por lo cual requirió terapias sustitutivas. Su estado persistió por más de 3 meses y se consideró como una insuficiencia renal crónica en fase terminal. Se realizaron varios exámenes complementarios en busca de la causa y se interconsultó con otras especialidades, como la de Genética Clínica, por la presencia de trastornos dismórficos; finalmente, se diagnosticó el síndrome de Robinow. El paciente permaneció con hemodiálisis por 2 años hasta que su condición fue estable para recibir un trasplante de riñón.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT The case report of an 18 years adolescent is described with pathological history of a surgery due to hypertelorism in his first year of life who was assisted in the Nephrology Service of Dr. Juan de la Cruz Martínez Maceira Northern Teaching Children Hospital in Santiago de Cuba, due to a marked decrease of the renal function, reason why he required substitute therapies. His condition persisted for more than 3 months and it was considered as a chronic kidney failure in end stage. Several complementary exams were carried out to find out the cause and other specialties participated in the diagnosis, as Clinical Genetics, due to the presence of dysmorphic disorders; finally, Robinow syndrome was diagnosed. The patient remained with hemodialysis for 2 years until her condition was stable to receive a renal transplant.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Robinow]]></kwd>
<kwd lng="es"><![CDATA[insuficiencia renal crónica]]></kwd>
<kwd lng="es"><![CDATA[fallo renal crónico]]></kwd>
<kwd lng="es"><![CDATA[diálisis renal]]></kwd>
<kwd lng="en"><![CDATA[Robinow syndrome]]></kwd>
<kwd lng="en"><![CDATA[chronic renal insufficiency]]></kwd>
<kwd lng="en"><![CDATA[chronic kidney failure]]></kwd>
<kwd lng="en"><![CDATA[renal dialysis]]></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[Da Silva de Magalhães]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Jin Fujioka]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Barbosa Chaves]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Juárez Montero]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Robinow. Relato de caso y revisión de la literatura]]></article-title>
<source><![CDATA[Rev Chil Neurocirugía]]></source>
<year>2017</year>
<volume>43</volume>
<page-range>134-7</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hosseini-Farahabadi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gignac]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Danescu]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Fu]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Richman]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome]]></article-title>
<source><![CDATA[J Dent Res]]></source>
<year>2017</year>
<volume>96</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1265-72</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rath]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalencia de las enfermedades raras: Datos bibliográficos. Lista por orden de prevalencia decreciente o por número de casos o familias publicados]]></article-title>
<source><![CDATA[Informes Periódicos de Orphanet]]></source>
<year>2020</year>
<numero>2</numero>
<issue>2</issue>
</nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Basman]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Akay]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Peker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Gungor]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Akarslan]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Ozcan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dental management and orofacial manifestations of a patient with Robinow Syndrome]]></article-title>
<source><![CDATA[J Istanb Univ Fac Dent]]></source>
<year>2017</year>
<volume>51</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>43-8</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[Jain]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Gupte]]></surname>
<given-names><![CDATA[TS]]></given-names>
</name>
<name>
<surname><![CDATA[Jetpurwala]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Pratik Dedhia]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Robinow Syndrome and Fusion of Primary Teeth]]></article-title>
<source><![CDATA[Contemp Clin Dent]]></source>
<year>2017</year>
<volume>8</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>479-81</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[Bunn]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Daniel]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Rösken]]></surname>
<given-names><![CDATA[HS]]></given-names>
</name>
<name>
<surname><![CDATA[O&amp;apos;Neill]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Cameron-Christie]]></surname>
<given-names><![CDATA[SR]]></given-names>
</name>
<name>
<surname><![CDATA[Morgan]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2015</year>
<volume>96</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>623-30</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[Jeppesen]]></surname>
<given-names><![CDATA[BF]]></given-names>
</name>
<name>
<surname><![CDATA[Hove]]></surname>
<given-names><![CDATA[HB]]></given-names>
</name>
<name>
<surname><![CDATA[Kreiborg]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hermann]]></surname>
<given-names><![CDATA[NV]]></given-names>
</name>
<name>
<surname><![CDATA[Darvann]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
<name>
<surname><![CDATA[Jørgensen]]></surname>
<given-names><![CDATA[FS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound]]></article-title>
<source><![CDATA[Clin Case Rep]]></source>
<year>2017</year>
<volume>5</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1072-6</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alfonzo Guerra]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<source><![CDATA[Nefrología]]></source>
<year>2016</year>
<publisher-loc><![CDATA[La Habana ]]></publisher-loc>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mishra]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar Agarwalla]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pradhan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Robinow Syndrome: A Rare Diagnosis]]></article-title>
<source><![CDATA[J Clin Diagn Res]]></source>
<year>2015</year>
<volume>9</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>SD04-5</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[White]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mazzeu]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Hoischen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bayram]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Withers]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gezdirici]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2016</year>
<volume>98</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>553-61</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
