Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
Identifieur interne : 004458 ( PubMed/Curation ); précédent : 004457; suivant : 004459Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
Auteurs : Inge D C. Van Balkom ; Mariel Alders ; Judith Allanson ; Carlo Bellini ; Ulrich Frank ; Greetje De Jong ; Ingeborg Kolbe ; Didier Lacombe ; Stan Rockson ; Peter Rowe ; Frits Wijburg ; Raoul C M. HennekamSource :
- American journal of medical genetics [ 0148-7299 ] ; 2002.
Descripteurs français
- KwdFr :
- Caryotypage, Diagnostic différentiel, Déficience intellectuelle (), Déficience intellectuelle (anatomopathologie), Enfant, Enfant d'âge préscolaire, Femelle, Gènes récessifs (génétique), Humains, Lymphangiectasie (), Lymphangiectasie (anatomopathologie), Lymphoedème (), Lymphoedème (anatomopathologie), Malformations multiples (anatomopathologie), Malformations multiples (génétique), Mâle, Nourrisson, Syndrome.
- MESH :
- anatomopathologie : Déficience intellectuelle, Lymphangiectasie, Lymphoedème, Malformations multiples.
- génétique : Gènes récessifs, Malformations multiples.
- Caryotypage, Diagnostic différentiel, Déficience intellectuelle, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphangiectasie, Lymphoedème, Mâle, Nourrisson, Syndrome.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (pathology), Child, Child, Preschool, Diagnosis, Differential, Female, Genes, Recessive (genetics), Humans, Infant, Intellectual Disability (complications), Intellectual Disability (pathology), Karyotyping, Lymphangiectasis (complications), Lymphangiectasis (pathology), Lymphedema (complications), Lymphedema (pathology), Male, Syndrome.
- MESH :
- complications : Intellectual Disability, Lymphangiectasis, Lymphedema.
- genetics : Abnormalities, Multiple, Genes, Recessive.
- pathology : Abnormalities, Multiple, Intellectual Disability, Lymphangiectasis, Lymphedema.
- Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Infant, Karyotyping, Male, Syndrome.
Abstract
The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.
DOI: 10.1002/ajmg.10707
PubMed: 12376947
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Inge D C. Van Balkom<affiliation><nlm:affiliation>Child- and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies.</nlm:affiliation><wicri:noCountry code="subField">Dutch West Indies</wicri:noCountry></affiliation>Le document en format XML
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Van Balkom</name><affiliation><nlm:affiliation>Child- and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies.</nlm:affiliation><wicri:noCountry code="subField">Dutch West Indies</wicri:noCountry></affiliation></author><author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name></author><author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name></author><author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name></author><author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name></author><author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name></author><author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name></author><author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name></author><author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name></author><author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C M" last="Hennekam">Raoul C M. 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Van Balkom</name><affiliation><nlm:affiliation>Child- and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies.</nlm:affiliation><wicri:noCountry code="subField">Dutch West Indies</wicri:noCountry></affiliation></author><author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name></author><author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name></author><author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name></author><author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name></author><author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name></author><author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name></author><author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name></author><author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name></author><author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C M" last="Hennekam">Raoul C M. Hennekam</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="2002" type="published">2002</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>Diagnosis, Differential</term><term>Female</term><term>Genes, Recessive (genetics)</term><term>Humans</term><term>Infant</term><term>Intellectual Disability (complications)</term><term>Intellectual Disability (pathology)</term><term>Karyotyping</term><term>Lymphangiectasis (complications)</term><term>Lymphangiectasis (pathology)</term><term>Lymphedema (complications)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Caryotypage</term><term>Diagnostic différentiel</term><term>Déficience intellectuelle ()</term><term>Déficience intellectuelle (anatomopathologie)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Gènes récessifs (génétique)</term><term>Humains</term><term>Lymphangiectasie ()</term><term>Lymphangiectasie (anatomopathologie)</term><term>Lymphoedème ()</term><term>Lymphoedème (anatomopathologie)</term><term>Malformations multiples (anatomopathologie)</term><term>Malformations multiples (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Intellectual Disability</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Genes, Recessive</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Gènes récessifs</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Infant</term><term>Karyotyping</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Caryotypage</term><term>Diagnostic différentiel</term><term>Déficience intellectuelle</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Mâle</term><term>Nourrisson</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12376947</PMID><DateCreated><Year>2002</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2003</Year><Month>03</Month><Day>13</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>112</Volume><Issue>4</Issue><PubDate><Year>2002</Year><Month>Nov</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.</ArticleTitle><Pagination><MedlinePgn>412-21</MedlinePgn></Pagination><Abstract><AbstractText>The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.</AbstractText><CopyrightInformation>Copyright 2002 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Van Balkom</LastName><ForeName>Inge D C</ForeName><Initials>ID</Initials><AffiliationInfo><Affiliation>Child- and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alders</LastName><ForeName>Mariel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Allanson</LastName><ForeName>Judith</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bellini</LastName><ForeName>Carlo</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Frank</LastName><ForeName>Ulrich</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>De Jong</LastName><ForeName>Greetje</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Kolbe</LastName><ForeName>Ingeborg</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Lacombe</LastName><ForeName>Didier</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Rockson</LastName><ForeName>Stan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Rowe</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Wijburg</LastName><ForeName>Frits</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hennekam</LastName><ForeName>Raoul C M</ForeName><Initials>RC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet</MedlineTA><NlmUniqueID>7708900</NlmUniqueID><ISSNLinking>0148-7299</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003937" MajorTopicYN="N">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007621" MajorTopicYN="N">Karyotyping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008200" MajorTopicYN="N">Lymphangiectasis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>44</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>10</Month><Day>12</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>3</Month><Day>14</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>10</Month><Day>12</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12376947</ArticleId><ArticleId IdType="doi">10.1002/ajmg.10707</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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