Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.
Identifieur interne : 000516 ( France/Analysis ); précédent : 000515; suivant : 000517Arthrogryposis, 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
Affiliations:
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pubmed:1590979Le document en format XML
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Finck</name></author><author><name sortKey="Janser, B" sort="Janser, B" uniqKey="Janser B" first="B" last="Janser">B. Janser</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1992">1992</date><idno type="RBID">pubmed:1590979</idno><idno type="pmid">1590979</idno><idno type="wicri:Area/PubMed/Corpus">004835</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004835</idno><idno type="wicri:Area/PubMed/Curation">004835</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004835</idno><idno type="wicri:Area/PubMed/Checkpoint">004835</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004835</idno><idno type="wicri:Area/Ncbi/Merge">001697</idno><idno type="wicri:Area/Ncbi/Curation">001697</idno><idno type="wicri:Area/Ncbi/Checkpoint">001697</idno><idno type="wicri:doubleKey">1015-8146:1992:Stoll C:arthrogryposis:ectodermal:dysplasia</idno><idno type="wicri:Area/Main/Merge">00B834</idno><idno type="wicri:Area/Main/Curation">00B150</idno><idno type="wicri:Area/Main/Exploration">00B150</idno><idno type="wicri:Area/France/Extraction">000516</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.</title><author><name sortKey="Stoll, C" sort="Stoll, C" uniqKey="Stoll C" first="C" last="Stoll">C. Stoll</name><affiliation wicri:level="3"><nlm:affiliation>Institut de Puériculture, Centre Hospitalier, Universitaire, Strasbourg.</nlm:affiliation><country>France</country><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName><wicri:orgArea>Institut de Puériculture, Centre Hospitalier, Universitaire</wicri:orgArea></affiliation></author><author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name></author><author><name sortKey="Finck, S" sort="Finck, S" uniqKey="Finck S" first="S" last="Finck">S. Finck</name></author><author><name sortKey="Janser, B" sort="Janser, B" uniqKey="Janser B" first="B" last="Janser">B. 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><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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