Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.
Identifieur interne : 004D49 ( PubMed/Curation ); précédent : 004D48; suivant : 004D50Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.
Auteurs : S. Strenge [Allemagne] ; U G FrosterSource :
- American journal of medical genetics [ 0148-7299 ] ; 1998.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Lymphoedème, Microcéphalie, Troubles de la croissance.
- Adulte, Enfant, Femelle, Humains, Mâle, Pedigree, Syndrome.
English descriptors
- KwdEn :
- MESH :
- genetics : Growth Disorders, Lymphedema, Microcephaly.
- Adult, Child, Female, Humans, Male, Pedigree, Syndrome.
Abstract
Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.
PubMed: 9880217
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Strenge</name><affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universität Leipzig, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Froster, U G" sort="Froster, U G" uniqKey="Froster U" first="U G" last="Froster">U G Froster</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>Female</term><term>Growth Disorders (genetics)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term><term>Troubles de la croissance (génétique)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Growth Disorders</term><term>Lymphedema</term><term>Microcephaly</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Microcéphalie</term><term>Troubles de la croissance</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Enfant</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">Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. 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