The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
Identifieur interne : 001707 ( Main/Exploration ); précédent : 001706; suivant : 001708The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
Auteurs : Giles Atton [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Vaughan Keeley [Royaume-Uni] ; Katie Riches [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Système lymphatique.
- diagnostic : Oedème, Syndrome de Turner.
- génétique : Oedème, Syndrome de Turner.
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Phénotype.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Edema, Turner Syndrome.
- genetics : Edema, Turner Syndrome.
- pathology : Lymphatic System.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Middle Aged, Phenotype.
Abstract
Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.
Url:
DOI: 10.1038/ejhg.2015.41
PubMed: 25804399
PubMed Central: 4486366
Affiliations:
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London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Keeley, Vaughan" sort="Keeley, Vaughan" uniqKey="Keeley V" first="Vaughan" last="Keeley">Vaughan Keeley</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Riches, Katie" sort="Riches, Katie" uniqKey="Riches K" first="Katie" last="Riches">Katie Riches</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>, Derby,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Lymphovascular 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Londres</orgName></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Edema (diagnosis)</term><term>Edema (genetics)</term><term>Female</term><term>Humans</term><term>Lymphatic System (pathology)</term><term>Middle Aged</term><term>Phenotype</term><term>Turner Syndrome (diagnosis)</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Oedème (diagnostic)</term><term>Oedème (génétique)</term><term>Phénotype</term><term>Syndrome de Turner (diagnostic)</term><term>Syndrome de Turner (génétique)</term><term>Système lymphatique (anatomopathologie)</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Système lymphatique</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Edema</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Oedème</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Edema</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Oedème</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphatic System</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.</p></div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name></noRegion><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><name sortKey="Keeley, Vaughan" sort="Keeley, Vaughan" uniqKey="Keeley V" first="Vaughan" last="Keeley">Vaughan Keeley</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Riches, Katie" sort="Riches, Katie" uniqKey="Riches K" first="Katie" last="Riches">Katie Riches</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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