Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Identifieur interne : 002948 ( PubMed/Corpus ); précédent : 002947; suivant : 002949Emberger 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 [ 1552-4833 ] ; 2010.
English descriptors
- KwdEn :
- Abnormalities, Multiple, Adolescent, Adult, 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 (complications), Lymphedema (genetics), Male, Monosomy, Myelodysplastic Syndromes (complications), Myelodysplastic Syndromes (genetics), 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.
DOI: 10.1002/ajmg.a.33445
PubMed: 20803646
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pubmed:20803646Le document en format XML
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Keenan</name></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name></author><author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="RBID">pubmed:20803646</idno><idno type="pmid">20803646</idno><idno type="doi">10.1002/ajmg.a.33445</idno><idno type="wicri:Area/PubMed/Corpus">002948</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002948</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.</title><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK. smansour@sgul.ac.uk</nlm:affiliation></affiliation></author><author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name></author><author><name sortKey="Steward, Colin" sort="Steward, Colin" uniqKey="Steward C" first="Colin" last="Steward">Colin Steward</name></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name></author><author><name sortKey="Lunt, Peter" sort="Lunt, Peter" uniqKey="Lunt P" first="Peter" last="Lunt">Peter Lunt</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="Dokal, Inderjeet" sort="Dokal, Inderjeet" uniqKey="Dokal I" first="Inderjeet" last="Dokal">Inderjeet Dokal</name></author><author><name sortKey="Vulliamy, Tom" sort="Vulliamy, Tom" uniqKey="Vulliamy T" first="Tom" last="Vulliamy">Tom Vulliamy</name></author><author><name sortKey="Gibson, Brenda" sort="Gibson, Brenda" uniqKey="Gibson B" first="Brenda" last="Gibson">Brenda Gibson</name></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name></author><author><name sortKey="Cottrell, Sally" sort="Cottrell, Sally" uniqKey="Cottrell S" first="Sally" last="Cottrell">Sally Cottrell</name></author><author><name sortKey="Kiely, Louise" sort="Kiely, Louise" uniqKey="Kiely L" first="Louise" last="Kiely">Louise Kiely</name></author><author><name sortKey="Tinworth, Lorna" sort="Tinworth, Lorna" uniqKey="Tinworth L" first="Lorna" last="Tinworth">Lorna Tinworth</name></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name></author><author><name sortKey="Mufti, Ghulam" sort="Mufti, Ghulam" uniqKey="Mufti G" first="Ghulam" last="Mufti">Ghulam Mufti</name></author><author><name sortKey="Cornish, Jackie" sort="Cornish, Jackie" uniqKey="Cornish J" first="Jackie" last="Cornish">Jackie Cornish</name></author><author><name sortKey="Keenan, Russell" sort="Keenan, Russell" uniqKey="Keenan R" first="Russell" last="Keenan">Russell Keenan</name></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name></author><author><name sortKey="Murday, Victoria" sort="Murday, Victoria" uniqKey="Murday V" first="Victoria" last="Murday">Victoria Murday</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" 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>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 (complications)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Monosomy</term><term>Myelodysplastic Syndromes (complications)</term><term>Myelodysplastic Syndromes (genetics)</term><term>Young Adult</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" 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></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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20803646</PMID><DateCreated><Year>2010</Year><Month>08</Month><Day>30</Day></DateCreated><DateCompleted><Year>2010</Year><Month>12</Month><Day>15</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>152A</Volume><Issue>9</Issue><PubDate><Year>2010</Year><Month>Sep</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.</ArticleTitle><Pagination><MedlinePgn>2287-96</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.33445</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright 2010 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St. George's, University of London, London, UK. smansour@sgul.ac.uk</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Connell</LastName><ForeName>Fiona</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Steward</LastName><ForeName>Colin</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Smithson</LastName><ForeName>Sarah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Lunt</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Dokal</LastName><ForeName>Inderjeet</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Vulliamy</LastName><ForeName>Tom</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Gibson</LastName><ForeName>Brenda</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Hodgson</LastName><ForeName>Shirley</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Cottrell</LastName><ForeName>Sally</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Kiely</LastName><ForeName>Louise</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Tinworth</LastName><ForeName>Lorna</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Kalidas</LastName><ForeName>Kamini</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Mufti</LastName><ForeName>Ghulam</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Cornish</LastName><ForeName>Jackie</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Keenan</LastName><ForeName>Russell</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Murday</LastName><ForeName>Victoria</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><CollectiveName>Lymphoedema Research Consortium</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002897" MajorTopicYN="N">Chromosomes, Human, Pair 7</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005835" MajorTopicYN="N">Genitalia</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015470" MajorTopicYN="N">Leukemia, Myeloid, Acute</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D038061" MajorTopicYN="N">Lower Extremity Deformities, Congenital</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009006" MajorTopicYN="N">Monosomy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009190" MajorTopicYN="N">Myelodysplastic Syndromes</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>8</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>8</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20803646</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.33445</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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