Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
Identifieur interne : 001900 ( Pmc/Curation ); précédent : 001899; suivant : 001901Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
Auteurs : A. Berger ; N. Haschke ; C. Kohlhauser ; G. Amman ; U. Unterberger ; M. WeningerSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1998.
Abstract
We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition.
Url:
PubMed: 9475098
PubMed Central: 1051190
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001901
Links to Exploration step
PMC:1051190Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.</title><author><name sortKey="Berger, A" sort="Berger, A" uniqKey="Berger A" first="A" last="Berger">A. Berger</name></author><author><name sortKey="Haschke, N" sort="Haschke, N" uniqKey="Haschke N" first="N" last="Haschke">N. Haschke</name></author><author><name sortKey="Kohlhauser, C" sort="Kohlhauser, C" uniqKey="Kohlhauser C" first="C" last="Kohlhauser">C. Kohlhauser</name></author><author><name sortKey="Amman, G" sort="Amman, G" uniqKey="Amman G" first="G" last="Amman">G. Amman</name></author><author><name sortKey="Unterberger, U" sort="Unterberger, U" uniqKey="Unterberger U" first="U" last="Unterberger">U. Unterberger</name></author><author><name sortKey="Weninger, M" sort="Weninger, M" uniqKey="Weninger M" first="M" last="Weninger">M. Weninger</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">9475098</idno><idno type="pmc">1051190</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051190</idno><idno type="RBID">PMC:1051190</idno><date when="1998">1998</date><idno type="wicri:Area/Pmc/Corpus">001901</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001901</idno><idno type="wicri:Area/Pmc/Curation">001900</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001900</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.</title><author><name sortKey="Berger, A" sort="Berger, A" uniqKey="Berger A" first="A" last="Berger">A. Berger</name></author><author><name sortKey="Haschke, N" sort="Haschke, N" uniqKey="Haschke N" first="N" last="Haschke">N. Haschke</name></author><author><name sortKey="Kohlhauser, C" sort="Kohlhauser, C" uniqKey="Kohlhauser C" first="C" last="Kohlhauser">C. Kohlhauser</name></author><author><name sortKey="Amman, G" sort="Amman, G" uniqKey="Amman G" first="G" last="Amman">G. Amman</name></author><author><name sortKey="Unterberger, U" sort="Unterberger, U" uniqKey="Unterberger U" first="U" last="Unterberger">U. Unterberger</name></author><author><name sortKey="Weninger, M" sort="Weninger, M" uniqKey="Weninger M" first="M" last="Weninger">M. Weninger</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1998">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00230-0072-a" xlink:role="62"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00230-0072-b" xlink:role="62"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00230-0073-a" xlink:role="63"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">9475098</article-id><article-id pub-id-type="pmc">1051190</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Berger</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Haschke</surname><given-names>N</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kohlhauser</surname><given-names>C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Amman</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Unterberger</surname><given-names>U</given-names></name></contrib><contrib contrib-type="author"><name><surname>Weninger</surname><given-names>M</given-names></name></contrib></contrib-group><aff>University Children's Hospital Vienna, AKH, Department of Neonatology, Austria.</aff><pub-date pub-type="ppub"><month>1</month><year>1998</year></pub-date><volume>35</volume><issue>1</issue><fpage>61</fpage><lpage>64</lpage><abstract><p>We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00230-0072-a" xlink:role="62"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00230-0072-b" xlink:role="62"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00230-0073-a" xlink:role="63"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001900 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 001900 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Pmc
|étape= Curation
|type= RBID
|clé= PMC:1051190
|texte= Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:9475098" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |