<?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>0872-0754</journal-id>
<journal-title><![CDATA[Nascer e Crescer]]></journal-title>
<abbrev-journal-title><![CDATA[Nascer e Crescer]]></abbrev-journal-title>
<issn>0872-0754</issn>
<publisher>
<publisher-name><![CDATA[Centro Hospitalar do Porto]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-07542010000300013</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Genes, Crianças e Pediatras]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bandeira]]></surname>
<given-names><![CDATA[Anabela]]></given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martins]]></surname>
<given-names><![CDATA[Esmeralda]]></given-names>
</name>
<xref ref-type="aff" rid="A01"/>
</contrib>
</contrib-group>
<aff id="A01">
<institution><![CDATA[,Centro Hospitalar do Porto, EPE  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2010</year>
</pub-date>
<volume>19</volume>
<numero>3</numero>
<fpage>180</fpage>
<lpage>181</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542010000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542010000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542010000300013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[A 11 month-old-year boy presented with moon shaped face, limb shortening, deformity of hands and feets, low stature with weight on percentile 95, without macrocephaly. Analytically he presented with hypocalcaemia, hyperphosphatasemia and high parathormone. The skeleton x-ray did not show bone dysplasia. The typical phenotype led to the diagnosis of Osteodistrophy of Albright.]]></p></abstract>
</article-meta>
</front><body><![CDATA[ <p><b>Genes, Crianças e Pediatras </b></p>      <p>&nbsp;</p>      <p>Anabela Bandeira<sup>1</sup>, Esmeralda Martins<sup>2 </sup></p>      <p><sup>1 </sup>Assistente Hospitalar de Pediatria </p>      <p><sup>2 </sup>Assistente Hospitalar Graduada de Pediatria. Centro Hospitalar do Porto </p>      <p>&nbsp;</p>      <p><b>ABSTRACT </b></p>      <p>A 11 month-old-year boy presented with moon shaped face, limb shortening, deformity of hands and feets, low stature with weight on percentile 95, without macrocephaly. Analytically he presented with hypocalcaemia, hyperphosphatasemia and high parathormone. The skeleton x-ray did not show bone dysplasia. The typical phenotype led to the diagnosis of Osteodistrophy of Albright. </p>      <p>&nbsp;</p>     <p>Texto completo disponível apenas em PDF.</p>     ]]></body>
<body><![CDATA[<p>Full text only available in PDf format.</p>     <p>&nbsp;</p>      <p><b>BIBLIOGRAFIA </b></p>      <!-- ref --><p>1. Burgert T, Markowitz M. Understanding and recognizing pseudo hypoparathy­roidism. PediatrRev.2005;26:308–9. &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;[&#160;<a href="javascript:void(0);" onclick="javascript: window.open('/scielo.php?script=sci_nlinks&ref=000016&pid=S0872-0754201000030001300001&lng=','','width=640,height=500,resizable=yes,scrollbars=1,menubar=yes,');">Links</a>&#160;]<!-- end-ref --><p>2. Sun L, Cui B, Zhao H, Tao B, Wang W, Li X, et al. Identi&#64257;cation of a novel GNSA mutation for  pseudohypopara­thyroidis in a Chinese family. Endocrinology.2009;36:25–9. </p>      <p>3. Allgrove J. The parathyroid and disorders of calcium metabolism. En: Brook C, Clayton P, Brown Roselind, editores. Brook’sClinical Pediatric Endocrinology,5ed. Oxford: Blackwell Publishing; 2005. p.263–71. </p>      <p>4. Eizaguirre M, Urbina I, Urzainqui M, Larreina R, Martín J.  Osteodistro&#64257;a hereditária de Albright. Identi&#64257;cac&#305;ón de una  mutac&#305;ón original en una familia. AnEspPediatr.2001;54: 598–600. </p>      <p>5. Yu D, Yu S, Schuster V, Kruse K, Clericuzio C, Weinstein L. Identi&#64257;cation  of two novel deletion mutation within the Gsa gene (GNSA1) in Albright Hereditary Osteodystrophy. JClinEndocrinol Metab.  1999;84:3254–9. </p>      <p>6. Bastepe M, Juppner H. GNSA locus and pseudohypoparathyroidism. Hor­mRes.2005;63:65–74. </p>      <p>7. Mariot V, Maupetit-Méhouas S, Sinding S, Kottler M, Linglart A. A maternal    epimutation of the GNAS leads to Albright Osteodystrophy and parathy­roid hormone    resistance. JClinEndocrinol Metab. 2008;93:661–5.</p>     ]]></body>
<body><![CDATA[ ]]></body><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Burgert]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Markowitz]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang="en"><![CDATA[Understanding and recognizing pseudo hypoparathy­roidism]]></article-title>
<source><![CDATA[PediatrRev]]></source>
<year>2005</year>
<volume>26</volume>
<page-range>308-9</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
