Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
Identifieur interne : 00AF62 ( Main/Merge ); précédent : 00AF61; suivant : 00AF63Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
Auteurs : C. Limwongse [États-Unis] ; R E Wyszynski ; L H Dickerman ; N H RobinSource :
- American journal of medical genetics [ 0148-7299 ] ; 1999.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Communications interauriculaires, Dysplasie rétinienne, Lymphoedème, Microcéphalie.
- malformations : Choroïde.
- Adolescent, Faciès, Femelle, Humains, Mâle, Pedigree, Syndrome.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Choroid.
- genetics : Heart Septal Defects, Atrial, Lymphedema, Microcephaly, Retinal Dysplasia.
- Adolescent, Facies, Female, Humans, Male, Pedigree, Syndrome.
Abstract
We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.
PubMed: 10482868
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pubmed:10482868Le document en format XML
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Limwongse</name><affiliation wicri:level="1"><nlm:affiliation>Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106</wicri:regionArea><wicri:noRegion>Ohio 44106</wicri:noRegion></affiliation></author><author><name sortKey="Wyszynski, R E" sort="Wyszynski, R E" uniqKey="Wyszynski R" first="R E" last="Wyszynski">R E Wyszynski</name></author><author><name sortKey="Dickerman, L H" sort="Dickerman, L H" uniqKey="Dickerman L" first="L H" last="Dickerman">L H Dickerman</name></author><author><name sortKey="Robin, N H" sort="Robin, N H" uniqKey="Robin N" first="N H" last="Robin">N H Robin</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Choroid (abnormalities)</term><term>Facies</term><term>Female</term><term>Heart Septal Defects, Atrial (genetics)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Pedigree</term><term>Retinal Dysplasia (genetics)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Choroïde (malformations)</term><term>Communications interauriculaires (génétique)</term><term>Dysplasie rétinienne (génétique)</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Choroid</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Heart Septal Defects, Atrial</term><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Communications interauriculaires</term><term>Dysplasie rétinienne</term><term>Lymphoedème</term><term>Microcéphalie</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Choroïde</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Facies</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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