Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
Identifieur interne : 00B453 ( Main/Exploration ); précédent : 00B452; suivant : 00B454Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
Auteurs : A. Berger [Autriche] ; N. Haschke [Autriche] ; C. Kohlhauser [Autriche] ; G. Amman [Autriche] ; U. Unterberger [Autriche] ; M. Weninger [Autriche]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 1998-01.
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:
- https://api.istex.fr/document/032B14A198977381657D6D509F44D247CB68AA69/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051190
DOI: 10.1136/jmg.35.1.61
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000149
- to stream Istex, to step Curation: 000149
- to stream Istex, to step Checkpoint: 003B88
- to stream Main, to step Merge: 00BB66
- to stream Pmc, to step Corpus: 001901
- to stream Pmc, to step Curation: 001900
- to stream Pmc, to step Checkpoint: 004165
- to stream Ncbi, to step Merge: 00BB26
- to stream Ncbi, to step Curation: 00BB26
- to stream Ncbi, to step Checkpoint: 00BB26
- to stream Main, to step Merge: 00B744
- to stream Main, to step Curation: 00B453
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><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">ISTEX</idno><idno type="RBID">ISTEX:032B14A198977381657D6D509F44D247CB68AA69</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1136/jmg.35.1.61</idno><idno type="url">https://api.istex.fr/document/032B14A198977381657D6D509F44D247CB68AA69/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000149</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000149</idno><idno type="wicri:Area/Istex/Curation">000149</idno><idno type="wicri:Area/Istex/Checkpoint">003B88</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003B88</idno><idno type="wicri:doubleKey">0022-2593:1998:Berger A:neonatal:cholestasis:and</idno><idno type="wicri:Area/Main/Merge">00BB66</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051190</idno><idno type="RBID">PMC:1051190</idno><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><idno type="wicri:Area/Pmc/Checkpoint">004165</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">004165</idno><idno type="wicri:Area/Ncbi/Merge">00BB26</idno><idno type="wicri:Area/Ncbi/Curation">00BB26</idno><idno type="wicri:Area/Ncbi/Checkpoint">00BB26</idno><idno type="wicri:doubleKey">0022-2593:1998:Berger A:neonatal:cholestasis:and</idno><idno type="wicri:Area/Main/Merge">00B744</idno><idno type="wicri:Area/Main/Curation">00B453</idno><idno type="wicri:Area/Main/Exploration">00B453</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author><author><name sortKey="Haschke, N" sort="Haschke, N" uniqKey="Haschke N" first="N" last="Haschke">N. Haschke</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author><author><name sortKey="Kohlhauser, C" sort="Kohlhauser, C" uniqKey="Kohlhauser C" first="C" last="Kohlhauser">C. Kohlhauser</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author><author><name sortKey="Amman, G" sort="Amman, G" uniqKey="Amman G" first="G" last="Amman">G. Amman</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author><author><name sortKey="Unterberger, U" sort="Unterberger, U" uniqKey="Unterberger U" first="U" last="Unterberger">U. Unterberger</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author><author><name sortKey="Weninger, M" sort="Weninger, M" uniqKey="Weninger M" first="M" last="Weninger">M. Weninger</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>University Children's Hospital Vienna, AKH, Department of Neonatology</wicri:regionArea><wicri:noRegion>Department of Neonatology</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="1998-01">1998-01</date><biblScope unit="volume">35</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="61">61</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">032B14A198977381657D6D509F44D247CB68AA69</idno><idno type="DOI">10.1136/jmg.35.1.61</idno><idno type="href">jmedgenet-35-61.pdf</idno><idno type="PMID">9475098</idno><idno type="local">jmedgenet;35/1/61</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Autriche</li></country></list><tree><country name="Autriche"><noRegion><name sortKey="Berger, A" sort="Berger, A" uniqKey="Berger A" first="A" last="Berger">A. Berger</name></noRegion><name sortKey="Amman, G" sort="Amman, G" uniqKey="Amman G" first="G" last="Amman">G. Amman</name><name sortKey="Haschke, N" sort="Haschke, N" uniqKey="Haschke N" first="N" last="Haschke">N. Haschke</name><name sortKey="Kohlhauser, C" sort="Kohlhauser, C" uniqKey="Kohlhauser C" first="C" last="Kohlhauser">C. Kohlhauser</name><name sortKey="Unterberger, U" sort="Unterberger, U" uniqKey="Unterberger U" first="U" last="Unterberger">U. Unterberger</name><name sortKey="Weninger, M" sort="Weninger, M" uniqKey="Weninger M" first="M" last="Weninger">M. Weninger</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00B453 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00B453 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:032B14A198977381657D6D509F44D247CB68AA69
|texte= Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
}}
| This area was generated with Dilib version V0.6.31. |  |