Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.
Identifieur interne : 001697 ( Ncbi/Merge ); précédent : 001696; suivant : 001698Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.
Auteurs : C. Stoll [France] ; Y. Alembik ; S. Finck ; B. JanserSource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 1992.
Descripteurs français
- KwdFr :
- Aberrations des chromosomes (génétique), Adulte, Arthrogrypose (diagnostic), Arthrogrypose (génétique), Consanguinité, Dysplasie ectodermique (diagnostic), Dysplasie ectodermique (génétique), Enfant, Femelle, Gènes récessifs (génétique), Homozygote, Humains, Maladies chromosomiques, Mâchoire partiellement édentée (génétique), Pedigree, Phénotype.
- MESH :
English descriptors
- KwdEn :
- Adult, Arthrogryposis (diagnosis), Arthrogryposis (genetics), Child, Chromosome Aberrations (genetics), Chromosome Disorders, Consanguinity, Ectodermal Dysplasia (diagnosis), Ectodermal Dysplasia (genetics), Female, Genes, Recessive (genetics), Homozygote, Humans, Jaw, Edentulous, Partially (genetics), Pedigree, Phenotype.
- MESH :
- diagnosis : Arthrogryposis, Ectodermal Dysplasia.
- genetics : Arthrogryposis, Chromosome Aberrations, Ectodermal Dysplasia, Genes, Recessive, Jaw, Edentulous, Partially.
- Adult, Child, Chromosome Disorders, Consanguinity, Female, Homozygote, Humans, Pedigree, Phenotype.
Abstract
Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.
PubMed: 1590979
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pubmed:1590979Le document en format XML
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Janser</name></author></analytic><series><title level="j">Genetic counseling (Geneva, Switzerland)</title><idno type="ISSN">1015-8146</idno><imprint><date when="1992" type="published">1992</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Arthrogryposis (diagnosis)</term><term>Arthrogryposis (genetics)</term><term>Child</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Consanguinity</term><term>Ectodermal Dysplasia (diagnosis)</term><term>Ectodermal Dysplasia (genetics)</term><term>Female</term><term>Genes, Recessive (genetics)</term><term>Homozygote</term><term>Humans</term><term>Jaw, Edentulous, Partially (genetics)</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes (génétique)</term><term>Adulte</term><term>Arthrogrypose (diagnostic)</term><term>Arthrogrypose (génétique)</term><term>Consanguinité</term><term>Dysplasie ectodermique (diagnostic)</term><term>Dysplasie ectodermique (génétique)</term><term>Enfant</term><term>Femelle</term><term>Gènes récessifs (génétique)</term><term>Homozygote</term><term>Humains</term><term>Maladies chromosomiques</term><term>Mâchoire partiellement édentée (génétique)</term><term>Pedigree</term><term>Phénotype</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Arthrogryposis</term><term>Ectodermal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Arthrogrypose</term><term>Dysplasie ectodermique</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arthrogryposis</term><term>Chromosome Aberrations</term><term>Ectodermal Dysplasia</term><term>Genes, Recessive</term><term>Jaw, Edentulous, Partially</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Arthrogrypose</term><term>Dysplasie ectodermique</term><term>Gènes récessifs</term><term>Mâchoire partiellement édentée</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Chromosome Disorders</term><term>Consanguinity</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Consanguinité</term><term>Enfant</term><term>Femelle</term><term>Homozygote</term><term>Humains</term><term>Maladies chromosomiques</term><term>Pedigree</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">1590979</PMID><DateCompleted><Year>1992</Year><Month>07</Month><Day>01</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>3</Volume><Issue>1</Issue><PubDate><Year>1992</Year></PubDate></JournalIssue><Title>Genetic counseling (Geneva, Switzerland)</Title><ISOAbbreviation>Genet. Couns.</ISOAbbreviation></Journal><ArticleTitle>Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.</ArticleTitle><Pagination><MedlinePgn>35-9</MedlinePgn></Pagination><Abstract><AbstractText>Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Stoll</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institut de Puériculture, Centre Hospitalier, Universitaire, Strasbourg.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alembik</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Finck</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Janser</LastName><ForeName>B</ForeName><Initials>B</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="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001176" MajorTopicYN="N">Arthrogryposis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002869" MajorTopicYN="N">Chromosome Aberrations</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D025063" MajorTopicYN="N">Chromosome Disorders</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004476" MajorTopicYN="N">Ectodermal Dysplasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006720" MajorTopicYN="N">Homozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007576" MajorTopicYN="N">Jaw, Edentulous, Partially</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1992</Year><Month>1</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1992</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1992</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">1590979</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Alsace (région administrative)</li><li>Grand Est</li></region><settlement><li>Strasbourg</li></settlement></list><tree><noCountry><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name><name sortKey="Finck, S" sort="Finck, S" uniqKey="Finck S" first="S" last="Finck">S. Finck</name><name sortKey="Janser, B" sort="Janser, B" uniqKey="Janser B" first="B" last="Janser">B. Janser</name></noCountry><country name="France"><region name="Grand Est"><name sortKey="Stoll, C" sort="Stoll, C" uniqKey="Stoll C" first="C" last="Stoll">C. Stoll</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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