Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.
Identifieur interne : 002A14 ( Ncbi/Merge ); précédent : 002A13; suivant : 002A15Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.
Auteurs : D. Lacombe [France] ; A. Taieb ; P. Masson ; M. Fayon ; J L DemarquezSource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 1991.
Descripteurs français
- KwdFr :
- Aberrations des chromosomes (diagnostic), Aberrations des chromosomes (génétique), Complications de la grossesse, Femelle, Grossesse, Humains, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (étiologie), Maladies chromosomiques, Maladies de la peau (diagnostic), Maladies de la peau (génétique), Maladies foetales (génétique), Mâle, Nouveau-né, Phénotype, Syndrome de Noonan (diagnostic), Syndrome de Noonan (génétique), Syndrome de Noonan (étiologie).
- MESH :
- anatomopathologie : Lymphoedème.
- diagnostic : Aberrations des chromosomes, Maladies de la peau, Syndrome de Noonan.
- génétique : Aberrations des chromosomes, Lymphoedème, Maladies de la peau, Maladies foetales, Syndrome de Noonan.
- étiologie : Lymphoedème, Syndrome de Noonan.
- Complications de la grossesse, Femelle, Grossesse, Humains, Maladies chromosomiques, Mâle, Nouveau-né, Phénotype.
English descriptors
- KwdEn :
- Chromosome Aberrations (diagnosis), Chromosome Aberrations (genetics), Chromosome Disorders, Female, Fetal Diseases (genetics), Humans, Infant, Newborn, Lymphedema (etiology), Lymphedema (genetics), Lymphedema (pathology), Male, Noonan Syndrome (diagnosis), Noonan Syndrome (etiology), Noonan Syndrome (genetics), Phenotype, Pregnancy, Pregnancy Complications, Skin Diseases (diagnosis), Skin Diseases (genetics).
- MESH :
- diagnosis : Chromosome Aberrations, Noonan Syndrome, Skin Diseases.
- etiology : Lymphedema, Noonan Syndrome.
- genetics : Chromosome Aberrations, Fetal Diseases, Lymphedema, Noonan Syndrome, Skin Diseases.
- pathology : Lymphedema.
- Chromosome Disorders, Female, Humans, Infant, Newborn, Male, Phenotype, Pregnancy, Pregnancy Complications.
Abstract
The Noonan syndrome is a multiple congenital anomalies syndrome with variable expressivity and autosomal dominant inheritance. We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.
PubMed: 1799426
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pubmed:1799426Le document en format XML
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Masson</name></author><author><name sortKey="Fayon, M" sort="Fayon, M" uniqKey="Fayon M" first="M" last="Fayon">M. Fayon</name></author><author><name sortKey="Demarquez, J L" sort="Demarquez, J L" uniqKey="Demarquez J" first="J L" last="Demarquez">J L Demarquez</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1991">1991</date><idno type="RBID">pubmed:1799426</idno><idno type="pmid">1799426</idno><idno type="wicri:Area/PubMed/Corpus">005C31</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005C31</idno><idno type="wicri:Area/PubMed/Curation">005C31</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005C31</idno><idno type="wicri:Area/PubMed/Checkpoint">005C31</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">005C31</idno><idno type="wicri:Area/Ncbi/Merge">002A14</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.</title><author><name sortKey="Lacombe, D" sort="Lacombe, D" uniqKey="Lacombe D" first="D" last="Lacombe">D. 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We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">1799426</PMID><DateCreated><Year>1992</Year><Month>04</Month><Day>21</Day></DateCreated><DateCompleted><Year>1992</Year><Month>04</Month><Day>21</Day></DateCompleted><DateRevised><Year>2006</Year><Month>07</Month><Day>06</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1015-8146</ISSN><JournalIssue CitedMedium="Print"><Volume>2</Volume><Issue>4</Issue><PubDate><Year>1991</Year></PubDate></JournalIssue><Title>Genetic counseling (Geneva, Switzerland)</Title><ISOAbbreviation>Genet. Couns.</ISOAbbreviation></Journal><ArticleTitle>Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.</ArticleTitle><Pagination><MedlinePgn>249-53</MedlinePgn></Pagination><Abstract><AbstractText>The Noonan syndrome is a multiple congenital anomalies syndrome with variable expressivity and autosomal dominant inheritance. We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lacombe</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Clinique de Pédiatrie et Génétique médicale, Hôpital des Enfants, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Taieb</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Masson</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Fayon</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Demarquez</LastName><ForeName>J L</ForeName><Initials>JL</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Genet Couns</MedlineTA><NlmUniqueID>9015261</NlmUniqueID><ISSNLinking>1015-8146</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002869" MajorTopicYN="N">Chromosome Aberrations</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D025063" MajorTopicYN="N">Chromosome Disorders</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005315" MajorTopicYN="N">Fetal Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009634" MajorTopicYN="N">Noonan Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011247" MajorTopicYN="N">Pregnancy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011248" MajorTopicYN="Y">Pregnancy Complications</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012871" MajorTopicYN="N">Skin Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1991</Year><Month>1</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1991</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1991</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">1799426</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Aquitaine</li><li>Nouvelle-Aquitaine</li></region><settlement><li>Bordeaux</li></settlement></list><tree><noCountry><name sortKey="Demarquez, J L" sort="Demarquez, J L" uniqKey="Demarquez J" first="J L" last="Demarquez">J L Demarquez</name><name sortKey="Fayon, M" sort="Fayon, M" uniqKey="Fayon M" first="M" last="Fayon">M. Fayon</name><name sortKey="Masson, P" sort="Masson, P" uniqKey="Masson P" first="P" last="Masson">P. Masson</name><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name></noCountry><country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Lacombe, D" sort="Lacombe, D" uniqKey="Lacombe D" first="D" last="Lacombe">D. Lacombe</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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