Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
Identifieur interne : 005193 ( Istex/Corpus ); précédent : 005192; suivant : 005194Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
Auteurs : Sahar Mansour ; Fiona Connell ; Colin Steward ; Pia Ostergaard ; Glen Brice ; Sarah Smithson ; Peter Lunt ; Steve Jeffery ; Inderjeet Dokal ; Tom Vulliamy ; Brenda Gibson ; Shirley Hodgson ; Sally Cottrell ; Louise Kiely ; Lorna Tinworth ; Kamini Kalidas ; Ghulam Mufti ; Jackie Cornish ; Russell Keenan ; Peter Mortimer ; Victoria MurdaySource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-09.
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.
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DOI: 10.1002/ajmg.a.33445
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sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name><affiliation><mods:affiliation>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name><affiliation><mods:affiliation>Department of Haematology, Yorkhill Hospital, Glasgow, UK</mods:affiliation></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally 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UK</mods:affiliation></affiliation></author><author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name><affiliation><mods:affiliation>Department of Haematology, School of Medicine, King's College Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name><affiliation><mods:affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name><affiliation><mods:affiliation>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool, UK</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><mods:affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name><affiliation><mods:affiliation>Department of Clinical Genetics, Yorkhill Hospital, Glasgow, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AE79C9E9EE5F02E98C410325C1350F4CAC744816</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/ajmg.a.33445</idno><idno type="url">https://api.istex.fr/document/AE79C9E9EE5F02E98C410325C1350F4CAC744816/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005193</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005193</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases<ref type="note" target="#fn1"></ref></title><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George's, University of London, London SW17 0RE, UK.</mods:affiliation></affiliation></author><author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Steward, Colin" sort="Steward, Colin" uniqKey="Steward C" first="Colin" last="Steward">Colin Steward</name><affiliation><mods:affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name><affiliation><mods:affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name><affiliation><mods:affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name><affiliation><mods:affiliation>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name><affiliation><mods:affiliation>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name><affiliation><mods:affiliation>Department of Haematology, Yorkhill Hospital, Glasgow, UK</mods:affiliation></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name><affiliation><mods:affiliation>Department of Haematology, School of Medicine, King's College Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name><affiliation><mods:affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name><affiliation><mods:affiliation>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool, UK</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><mods:affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name><affiliation><mods:affiliation>Department of Clinical Genetics, Yorkhill Hospital, Glasgow, UK</mods:affiliation></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></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><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>lymphedema</json:string><json:string>monosomy</json:string><json:string>lymphatic</json:string><json:string>primary lymphedema</json:string><json:string>chromosome</json:string><json:string>runx1</json:string><json:string>cxcr4</json:string><json:string>abnormality</json:string><json:string>pathway</json:string><json:string>genet</json:string><json:string>bone marrow</json:string><json:string>karyotype</json:string><json:string>myelodysplasia</json:string><json:string>leukaemia</json:string><json:string>syndrome</json:string><json:string>genetics</json:string><json:string>autosomal</json:string><json:string>exon</json:string><json:string>cellulitis</json:string><json:string>noonan</json:string><json:string>hypotelorism</json:string><json:string>pancytopenia</json:string><json:string>emberger</json:string><json:string>noonan syndrome</json:string><json:string>vulliamy</json:string><json:string>sibship</json:string><json:string>deafness</json:string><json:string>sib</json:string><json:string>whim syndrome</json:string><json:string>lymphoscintigraphy</json:string><json:string>vegfr3</json:string><json:string>receptor</json:string><json:string>hypoplasia</json:string><json:string>dokal</json:string><json:string>myelodysplastic</json:string><json:string>vegf</json:string><json:string>ngers</json:string><json:string>lower limbs</json:string><json:string>hematological</json:string><json:string>myeloid</json:string><json:string>runx1 mutations</json:string><json:string>family history</json:string><json:string>dyskeratosis congenita</json:string><json:string>normal range</json:string><json:string>congenital</json:string><json:string>medical genetics part</json:string><json:string>lower limb</json:string><json:string>candidate genes</json:string><json:string>lower limb lymphedema</json:string><json:string>hematological abnormalities</json:string><json:string>dysplasia</json:string><json:string>marrow</json:string><json:string>anomaly</json:string><json:string>familial</json:string><json:string>myelodysplastic syndrome</json:string><json:string>forkhead transcription factors</json:string><json:string>wild syndrome</json:string><json:string>hydrops fetalis</json:string><json:string>acute myeloid leukaemia</json:string><json:string>epicanthic folds</json:string><json:string>mild hypotelorism</json:string><json:string>hearing loss</json:string><json:string>endothelial cells</json:string><json:string>bone marrow examination</json:string><json:string>high incidence</json:string><json:string>recurrent cellulitis</json:string><json:string>generalized warts</json:string><json:string>familial myelodysplasia</json:string><json:string>lymphoedema research consortium</json:string><json:string>further investigations</json:string><json:string>leukemia</json:string><json:string>limb</json:string><json:string>whim</json:string><json:string>lymphocyte subsets</json:string><json:string>squamous cell carcinoma</json:string><json:string>liver disease</json:string><json:string>blood karyotype</json:string><json:string>neck webbing</json:string><json:string>ataxia telangiectasia</json:string><json:string>right side</json:string><json:string>intestinal lymphangiectasia</json:string><json:string>occasional blasts</json:string><json:string>multiple warts</json:string><json:string>small palpebral</json:string><json:string>unrelated donor transplant</json:string><json:string>unrelated donor</json:string><json:string>nonconsanguineous parents</json:string><json:string>fanconi anemia</json:string><json:string>lymphatic vessel hypoplasia</json:string><json:string>bone marrow transplant</json:string><json:string>weeks gestation</json:string><json:string>marrow karyotype</json:string><json:string>american journal</json:string><json:string>milroy disease</json:string><json:string>causative genes</json:string><json:string>bone marrow karyotype</json:string><json:string>molecular investigations</json:string><json:string>variable penetrance</json:string><json:string>genital lymphatic abnormalities</json:string><json:string>familial platelet disorder</json:string><json:string>myeloid malignancy</json:string><json:string>british skin foundation</json:string><json:string>british heart foundation</json:string><json:string>main lymph</json:string><json:string>childhood onset</json:string><json:string>genet part</json:string><json:string>normal uptake</json:string><json:string>cxcr4 expression</json:string><json:string>normal intelligence</json:string><json:string>growth factor</json:string><json:string>yorkhill hospital</json:string><json:string>foxc transcription factors</json:string><json:string>clinical genetics</json:string><json:string>epidermodysplasia verruciformis</json:string><json:string>anogenital dysplasia</json:string><json:string>familial leukemia</json:string><json:string>point mutations</json:string><json:string>familial disorder</json:string><json:string>depressed immunity</json:string><json:string>silent intronic variation</json:string></teeft></keywords><author><json:item><name>Sahar Mansour</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string><json:string>SW Thames Regional Genetics Unit, St George's, University of London, London SW17 0RE, UK.</json:string></affiliations></json:item><json:item><name>Fiona Connell</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Colin Steward</name><affiliations><json:string>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</json:string></affiliations></json:item><json:item><name>Pia Ostergaard</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Glen Brice</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Sarah Smithson</name><affiliations><json:string>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</json:string></affiliations></json:item><json:item><name>Peter Lunt</name><affiliations><json:string>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</json:string></affiliations></json:item><json:item><name>Steve Jeffery</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Inderjeet Dokal</name><affiliations><json:string>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</json:string></affiliations></json:item><json:item><name>Tom Vulliamy</name><affiliations><json:string>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</json:string></affiliations></json:item><json:item><name>Brenda Gibson</name><affiliations><json:string>Department of Haematology, Yorkhill Hospital, Glasgow, UK</json:string></affiliations></json:item><json:item><name>Shirley Hodgson</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Sally Cottrell</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Louise Kiely</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Lorna Tinworth</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Kamini Kalidas</name><affiliations><json:string>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Ghulam Mufti</name><affiliations><json:string>Department of Haematology, School of Medicine, King's College Hospital, London, UK</json:string></affiliations></json:item><json:item><name>Jackie Cornish</name><affiliations><json:string>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</json:string></affiliations></json:item><json:item><name>Russell Keenan</name><affiliations><json:string>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool, UK</json:string></affiliations></json:item><json:item><name>Peter Mortimer</name><affiliations><json:string>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK</json:string></affiliations></json:item><json:item><name>Victoria Murday</name><affiliations><json:string>Department of Clinical Genetics, Yorkhill Hospital, Glasgow, UK</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>primary lymphedema</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>myelodysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>acute myeloid leukaemia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>monosomy 7</value></json:item></subject><articleId><json:string>AJMG33445</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>caseStudy</json:string></originalGenre><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.</abstract><qualityIndicators><score>7.18</score><pdfVersion>1.4</pdfVersion><pdfPageSize>593.972 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1013</abstractCharCount><pdfWordCount>6452</pdfWordCount><pdfCharCount>41162</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>140</abstractWordCount></qualityIndicators><title>Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases</title><genre><json:string>case-report</json:string></genre><host><title>American Journal of Medical Genetics Part 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type="first">Sahar</forename><surname>Mansour</surname></persName><email>smansour@sgul.ac.uk</email><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation><affiliation>SW Thames Regional Genetics Unit, St George's, University of London, London SW17 0RE, UK.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Fiona</forename><surname>Connell</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Colin</forename><surname>Steward</surname></persName><affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Pia</forename><surname>Ostergaard</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Glen</forename><surname>Brice</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Sarah</forename><surname>Smithson</surname></persName><affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Peter</forename><surname>Lunt</surname></persName><affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, 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key="GB"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Brenda</forename><surname>Gibson</surname></persName><affiliation>Department of Haematology, Yorkhill Hospital, Glasgow, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">Shirley</forename><surname>Hodgson</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Sally</forename><surname>Cottrell</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0013"><persName><forename type="first">Louise</forename><surname>Kiely</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0014"><persName><forename type="first">Lorna</forename><surname>Tinworth</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0015"><persName><forename type="first">Kamini</forename><surname>Kalidas</surname></persName><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0016"><persName><forename type="first">Ghulam</forename><surname>Mufti</surname></persName><affiliation>Department of Haematology, School of Medicine, King's College Hospital, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0017"><persName><forename type="first">Jackie</forename><surname>Cornish</surname></persName><affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0018"><persName><forename type="first">Russell</forename><surname>Keenan</surname></persName><affiliation>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0019"><persName><forename type="first">Peter</forename><surname>Mortimer</surname></persName><affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0020"><persName><forename type="first">Victoria</forename><surname>Murday</surname></persName><affiliation>Department of Clinical Genetics, Yorkhill Hospital, Glasgow, UK<address><country key="GB"></country></address></affiliation></author><idno type="istex">AE79C9E9EE5F02E98C410325C1350F4CAC744816</idno><idno type="DOI">10.1002/ajmg.a.33445</idno><idno type="unit">AJMG33445</idno><idno type="toTypesetVersion">file:AJMG.AJMG33445.pdf</idno></analytic><monogr><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="pISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><idno type="book-DOI">10.1002/(ISSN)1552-4833</idno><idno type="book-part-DOI">10.1002/ajmg.a.v152a:9</idno><idno type="product">AJMG</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 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type="main">Abstract</title><p>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.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V, Lymphoedema Research Consortium. 2010. Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases. Am J Med Genet Part A 152A:2287–2296.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases</title></titleInfo><name type="personal"><namePart type="given">Sahar</namePart><namePart type="family">Mansour</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><affiliation>SW Thames Regional Genetics Unit, St George's, University of London, London SW17 0RE, UK.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fiona</namePart><namePart type="family">Connell</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Colin</namePart><namePart type="family">Steward</namePart><affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pia</namePart><namePart type="family">Ostergaard</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Glen</namePart><namePart type="family">Brice</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah</namePart><namePart type="family">Smithson</namePart><affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Lunt</namePart><affiliation>Department of Clinical Genetics, St Michael's Hospital, St Michael's Hill, Bristol, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Steve</namePart><namePart type="family">Jeffery</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Inderjeet</namePart><namePart type="family">Dokal</namePart><affiliation>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tom</namePart><namePart type="family">Vulliamy</namePart><affiliation>Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brenda</namePart><namePart type="family">Gibson</namePart><affiliation>Department of Haematology, Yorkhill Hospital, Glasgow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shirley</namePart><namePart type="family">Hodgson</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sally</namePart><namePart type="family">Cottrell</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Louise</namePart><namePart type="family">Kiely</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lorna</namePart><namePart type="family">Tinworth</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kamini</namePart><namePart type="family">Kalidas</namePart><affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ghulam</namePart><namePart type="family">Mufti</namePart><affiliation>Department of Haematology, School of Medicine, King's College Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jackie</namePart><namePart type="family">Cornish</namePart><affiliation>Bone Marrow Transplant Unit, Royal Hospital for Children, Bristol, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Russell</namePart><namePart type="family">Keenan</namePart><affiliation>Department of Paediatric Haematology, Alderhey Children's Hospital, Liverpool, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Mortimer</namePart><affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Victoria</namePart><namePart type="family">Murday</namePart><affiliation>Department of Clinical Genetics, Yorkhill Hospital, Glasgow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-09</dateIssued><dateCaptured encoding="w3cdtf">2010-03-04</dateCaptured><dateValid encoding="w3cdtf">2010-03-19</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">2</extent><extent unit="references">50</extent><extent unit="words">8739</extent></physicalDescription><abstract 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.</abstract><note type="content">*How to cite this article: Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V, Lymphoedema Research Consortium. 2010. Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases. Am J Med Genet Part A 152A:2287–2296.</note><note type="funding">British Heart Foundation</note><note type="funding">British Skin Foundation</note><subject lang="en"><genre>keywords</genre><topic>primary lymphedema</topic><topic>myelodysplasia</topic><topic>acute myeloid leukaemia</topic><topic>monosomy 7</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Clinical Report</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>152A</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>2287</start><end>2296</end><total>10</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">AE79C9E9EE5F02E98C410325C1350F4CAC744816</identifier><identifier type="DOI">10.1002/ajmg.a.33445</identifier><identifier type="ArticleID">AJMG33445</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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