<?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>1012-2966</journal-id>
<journal-title><![CDATA[Gaceta Médica Boliviana]]></journal-title>
<abbrev-journal-title><![CDATA[Gac Med Bol]]></abbrev-journal-title>
<issn>1012-2966</issn>
<publisher>
<publisher-name><![CDATA[Facultad de Medicina de la Universidad Mayor de San Simón]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1012-29662022000100064</article-id>
<article-id pub-id-type="doi">10.47993/gmb.v45i1.387</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks]]></article-title>
<article-title xml:lang="en"><![CDATA[Autosomal Dominant Inheritance Associated Congenital Anonychia Congenita - Cooks Syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Teran]]></surname>
<given-names><![CDATA[Carlos G.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Diaz Florez]]></surname>
<given-names><![CDATA[Melissa A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Grandy]]></surname>
<given-names><![CDATA[Giuseppe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Municipal Andres Cuschieri  ]]></institution>
<addr-line><![CDATA[Cochabamba ]]></addr-line>
<country>Bolivia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Municipal Andres Cuschieri  ]]></institution>
<addr-line><![CDATA[Cochabamba ]]></addr-line>
<country>Bolivia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Pediatrico Albina R. de Patiño  ]]></institution>
<addr-line><![CDATA[Cochabamba ]]></addr-line>
<country>Bolivia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2022</year>
</pub-date>
<volume>45</volume>
<numero>1</numero>
<fpage>64</fpage>
<lpage>66</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S1012-29662022000100064&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S1012-29662022000100064&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S1012-29662022000100064&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una &#8220;enfermedad rara&#8221;. Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a &#8220;rare disease&#8221;. We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[anoniquia congénita]]></kwd>
<kwd lng="es"><![CDATA[braquidactilia]]></kwd>
<kwd lng="es"><![CDATA[hipoplasia de las uñas]]></kwd>
<kwd lng="es"><![CDATA[onicodistrofia]]></kwd>
<kwd lng="es"><![CDATA[síndrome de cooks]]></kwd>
<kwd lng="en"><![CDATA[congenital anonychia]]></kwd>
<kwd lng="en"><![CDATA[brachydactyly]]></kwd>
<kwd lng="en"><![CDATA[onychodystrophy]]></kwd>
<kwd lng="en"><![CDATA[cooks syndrome]]></kwd>
<kwd lng="en"><![CDATA[nail hypoplasia]]></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[Cooks]]></surname>
<given-names><![CDATA[RG]]></given-names>
</name>
<name>
<surname><![CDATA[Hertz]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Katznelson]]></surname>
<given-names><![CDATA[MBM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A new nail dysplasia syndrome with onychonychia and absence and/ or hypoplasia of distal phalanges]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>1985</year>
<volume>27</volume>
<page-range>85-91</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[Kurth]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Klopocki]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Stricker]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Duplications of non coding elements 5´ of SOX9 are associated with brachydactyly-anonychia]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2009</year>
<volume>41</volume>
<page-range>862-3</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[Hawsawi]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
<name>
<surname><![CDATA[AL Aboud]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Alfadley]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Anonychia congenita totalis a case report and review of the literature]]></article-title>
<source><![CDATA[Int J Dermatol]]></source>
<year>2002</year>
<volume>41</volume>
<page-range>397-9</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[Seitz]]></surname>
<given-names><![CDATA[CS]]></given-names>
</name>
<name>
<surname><![CDATA[Hamm]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Congenital Brachydactyly and nail hypoplasia clue to bone-dependent nail formation]]></article-title>
<source><![CDATA[Br J Dermatol]]></source>
<year>2005</year>
<volume>152</volume>
<page-range>1339-42</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Basta]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pandya]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics, X linked Inheritance]]></article-title>
<source><![CDATA[StatPearls. Treasure Island]]></source>
<year>2020</year>
<publisher-loc><![CDATA[(FL) ]]></publisher-loc>
<publisher-name><![CDATA[StatPearls Publishing]]></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[Brennan]]></surname>
<given-names><![CDATA[C.B.]]></given-names>
</name>
<name>
<surname><![CDATA[Buehler]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
<name>
<surname><![CDATA[Lesher]]></surname>
<given-names><![CDATA[J.L.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cooks syndrome: A case report and Brief Review]]></article-title>
<source><![CDATA[Pediatric Dermatology]]></source>
<year>2012</year>
<volume>30</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>e52-3</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
