Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
Identifieur interne : 007F44 ( Main/Exploration ); précédent : 007F43; suivant : 007F45Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
Auteurs : Pradeep C. Vasudevan [Royaume-Uni] ; Sixto Garcia-Minaur ; Maria Pilar Botella ; Antonio Perez-Aytes ; Nora L. Shannon ; Oliver W J. QuarrellSource :
- Clinical dysmorphology [ 0962-8827 ] ; 2005.
Descripteurs français
- KwdFr :
- Dysplasie rétinienne (anatomopathologie), Enfant, Enfant d'âge préscolaire, Face (malformations), Gènes dominants (génétique), Humains, Lymphoedème (anatomopathologie), Malformations multiples (anatomopathologie), Malformations multiples (génétique), Microcéphalie (anatomopathologie), Mâle, Nouveau-né, Syndrome.
- MESH :
- anatomopathologie : Dysplasie rétinienne, Lymphoedème, Malformations multiples, Microcéphalie.
- génétique : Gènes dominants, Malformations multiples.
- malformations : Face.
- Enfant, Enfant d'âge préscolaire, Humains, Mâle, Nouveau-né, Syndrome.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Face.
- genetics : Abnormalities, Multiple, Genes, Dominant.
- pathology : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- Child, Child, Preschool, Humans, Infant, Newborn, Male, Syndrome.
Abstract
Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.
PubMed: 15930898
Affiliations:
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Vasudevan</name><affiliation wicri:level="1"><nlm:affiliation>Sheffield Children's Hospital, Sheffield, UK. pradeepcv@yahoo.com</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sheffield Children's Hospital, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Garcia Minaur, Sixto" sort="Garcia Minaur, Sixto" uniqKey="Garcia Minaur S" first="Sixto" last="Garcia-Minaur">Sixto Garcia-Minaur</name></author><author><name sortKey="Botella, Maria Pilar" sort="Botella, Maria Pilar" uniqKey="Botella M" first="Maria Pilar" last="Botella">Maria Pilar Botella</name></author><author><name sortKey="Perez Aytes, Antonio" sort="Perez Aytes, Antonio" uniqKey="Perez Aytes A" first="Antonio" last="Perez-Aytes">Antonio Perez-Aytes</name></author><author><name sortKey="Shannon, Nora L" sort="Shannon, Nora L" uniqKey="Shannon N" first="Nora L" last="Shannon">Nora L. Shannon</name></author><author><name sortKey="Quarrell, Oliver W J" sort="Quarrell, Oliver W J" uniqKey="Quarrell O" first="Oliver W J" last="Quarrell">Oliver W J. Quarrell</name></author></analytic><series><title level="j">Clinical dysmorphology</title><idno type="ISSN">0962-8827</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Abnormalities, Multiple (pathology)</term><term>Child</term><term>Child, Preschool</term><term>Face (abnormalities)</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphedema (pathology)</term><term>Male</term><term>Microcephaly (pathology)</term><term>Retinal Dysplasia (pathology)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Dysplasie rétinienne (anatomopathologie)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Face (malformations)</term><term>Gènes dominants (génétique)</term><term>Humains</term><term>Lymphoedème (anatomopathologie)</term><term>Malformations multiples (anatomopathologie)</term><term>Malformations multiples (génétique)</term><term>Microcéphalie (anatomopathologie)</term><term>Mâle</term><term>Nouveau-né</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Face</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Dysplasie rétinienne</term><term>Lymphoedème</term><term>Malformations multiples</term><term>Microcéphalie</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Genes, Dominant</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Gènes dominants</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Face</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Mâle</term><term>Nouveau-né</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Botella, Maria Pilar" sort="Botella, Maria Pilar" uniqKey="Botella M" first="Maria Pilar" last="Botella">Maria Pilar Botella</name><name sortKey="Garcia Minaur, Sixto" sort="Garcia Minaur, Sixto" uniqKey="Garcia Minaur S" first="Sixto" last="Garcia-Minaur">Sixto Garcia-Minaur</name><name sortKey="Perez Aytes, Antonio" sort="Perez Aytes, Antonio" uniqKey="Perez Aytes A" first="Antonio" last="Perez-Aytes">Antonio Perez-Aytes</name><name sortKey="Quarrell, Oliver W J" sort="Quarrell, Oliver W J" uniqKey="Quarrell O" first="Oliver W J" last="Quarrell">Oliver W J. Quarrell</name><name sortKey="Shannon, Nora L" sort="Shannon, Nora L" uniqKey="Shannon N" first="Nora L" last="Shannon">Nora L. Shannon</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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