Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
Identifieur interne : 005D27 ( Main/Exploration ); précédent : 005D26; suivant : 005D28Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
Auteurs : Sahar Mansour [Royaume-Uni] ; Fiona Connell [Royaume-Uni] ; Colin Steward [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sarah Smithson [Royaume-Uni] ; Peter Lunt [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Inderjeet Dokal [Royaume-Uni] ; Tom Vulliamy [Royaume-Uni] ; Brenda Gibson [Royaume-Uni] ; Shirley Hodgson [Royaume-Uni] ; Sally Cottrell [Royaume-Uni] ; Louise Kiely [Royaume-Uni] ; Lorna Tinworth [Royaume-Uni] ; Kamini Kalidas [Royaume-Uni] ; Ghulam Mufti [Royaume-Uni] ; Jackie Cornish [Royaume-Uni] ; Russell Keenan [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Victoria Murday [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-09.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Anomalies morphologiques congénitales du membre inférieur, Chromosomes humains de la paire 7, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Jeune adulte, Leucémie aigüe myéloïde (), Leucémie aigüe myéloïde (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations multiples, Monosomie, Mâle, Nourrisson, Nouveau-né, Syndromes myélodysplasiques (), Syndromes myélodysplasiques (génétique), Système génital (malformations).
- MESH :
- génétique : Leucémie aigüe myéloïde, Lymphoedème, Syndromes myélodysplasiques.
- malformations : Système génital.
- Adolescent, Adulte, Anomalies morphologiques congénitales du membre inférieur, Chromosomes humains de la paire 7, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Jeune adulte, Leucémie aigüe myéloïde, Lymphoedème, Malformations multiples, Monosomie, Mâle, Nourrisson, Nouveau-né, Syndromes myélodysplasiques.
- Pascal (Inist)
English descriptors
- KwdEn :
- Abnormalities, Multiple, Acute myelogenous leukemia, Adolescent, Adult, Case study, Child, Child, Preschool, Chromosomes, Human, Pair 7, Female, Genitalia (abnormalities), Humans, Infant, Infant, Newborn, Leukemia, Myeloid, Acute (complications), Leukemia, Myeloid, Acute (genetics), Lower Extremity Deformities, Congenital, Lymphedema, Lymphedema (complications), Lymphedema (genetics), Male, Monosomy, Myelodysplastic Syndromes (complications), Myelodysplastic Syndromes (genetics), Myelodysplastic syndrome, Young Adult.
- MESH :
- abnormalities : Genitalia.
- complications : Leukemia, Myeloid, Acute, Lymphedema, Myelodysplastic Syndromes.
- genetics : Leukemia, Myeloid, Acute, Lymphedema, Myelodysplastic Syndromes.
- Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, Pair 7, Female, Humans, Infant, Infant, Newborn, Lower Extremity Deformities, Congenital, Male, Monosomy, Young Adult.
Abstract
Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33445
Affiliations:
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Londres</orgName></affiliation></author><author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Yorkhill Hospital, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, School of Medicine, King's College Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiac and Vascular Sciences, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Yorkhill Hospital, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">152A</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="2287">2287</biblScope><biblScope unit="page" to="2296">2296</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-09">2010-09</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple</term><term>Acute myelogenous leukemia</term><term>Adolescent</term><term>Adult</term><term>Case study</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 7</term><term>Female</term><term>Genitalia (abnormalities)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Leukemia, Myeloid, Acute (complications)</term><term>Leukemia, Myeloid, Acute (genetics)</term><term>Lower Extremity Deformities, Congenital</term><term>Lymphedema</term><term>Lymphedema (complications)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Monosomy</term><term>Myelodysplastic Syndromes (complications)</term><term>Myelodysplastic Syndromes (genetics)</term><term>Myelodysplastic syndrome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Anomalies morphologiques congénitales du membre inférieur</term><term>Chromosomes humains de la paire 7</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Leucémie aigüe myéloïde ()</term><term>Leucémie aigüe myéloïde (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Malformations multiples</term><term>Monosomie</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Syndromes myélodysplasiques ()</term><term>Syndromes myélodysplasiques (génétique)</term><term>Système génital (malformations)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Genitalia</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Leukemia, Myeloid, Acute</term><term>Lymphedema</term><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Leukemia, Myeloid, Acute</term><term>Lymphedema</term><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Leucémie aigüe myéloïde</term><term>Lymphoedème</term><term>Syndromes myélodysplasiques</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Système génital</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Abnormalities, Multiple</term><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 7</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lower Extremity Deformities, Congenital</term><term>Male</term><term>Monosomy</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Anomalies morphologiques congénitales du membre inférieur</term><term>Chromosomes humains de la paire 7</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Leucémie aigüe myéloïde</term><term>Lymphoedème</term><term>Malformations multiples</term><term>Monosomie</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Syndromes myélodysplasiques</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Etude cas</term><term>Leucémie aiguë myéloblastique</term><term>Lymphoedème</term><term>Monosomie</term><term>Syndrome myélodysplasique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency. © 2010 Wiley‐Liss, Inc.</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"><region name="Angleterre"><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</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="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name><name sortKey="Steward, Colin" sort="Steward, Colin" uniqKey="Steward C" first="Colin" last="Steward">Colin Steward</name><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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