Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review
Identifieur interne : 009673 ( Main/Curation ); précédent : 009672; suivant : 009674Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review
Auteurs : Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2002-11-01.
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.
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (pathology), Bibliographic review, Case study, Child, Child, Preschool, Concomitant disease, Consanguinity, Diagnosis, Differential, Family study, Female, Genes, Recessive (genetics), Genetic determinism, Hennekam syndrome, Human, Humans, Infant, Intellectual Disability (complications), Intellectual Disability (pathology), Karyotyping, Lymphangiectasis, Lymphangiectasis (complications), Lymphangiectasis (pathology), Lymphedema, Lymphedema (complications), Lymphedema (pathology), Male, Mental retardation, Pathogenesis, Phenotype, 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. © 2002 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.10707
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004208
- to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :004208
- to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002616
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004458
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :004458
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :004458
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000B29
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :000B29
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000B29
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :009A54
- to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000718
- to stream PascalFrancis, to step Curation: Pour aller vers cette notice dans l'étape Curation :000242
- to stream PascalFrancis, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000763
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :009C75
Links to Exploration step
ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8Curation
No country items
Inge D. C. Van Balkom<affiliation><wicri:noCountry code="subField">Indies</wicri:noCountry>
</affiliation>
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
</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>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8</idno>
<date when="2002" year="2002">2002</date>
<idno type="doi">10.1002/ajmg.10707</idno>
<idno type="url">https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004208</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004208</idno>
<idno type="wicri:Area/Istex/Curation">004208</idno>
<idno type="wicri:Area/Istex/Checkpoint">002616</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002616</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:12376947</idno>
<idno type="wicri:Area/PubMed/Corpus">004458</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004458</idno>
<idno type="wicri:Area/PubMed/Curation">004458</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004458</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004458</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004458</idno>
<idno type="wicri:Area/Ncbi/Merge">000B29</idno>
<idno type="wicri:Area/Ncbi/Curation">000B29</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000B29</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:Area/Main/Merge">009A54</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:03-0022921</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000718</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000242</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000763</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000763</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:Area/Main/Merge">009C75</idno>
<idno type="wicri:Area/Main/Curation">009673</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
<affiliation><wicri:noCountry code="subField">Indies</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, Istituto G. Gaslini, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Children's Hospital, Braunschweig</wicri:regionArea>
<wicri:noRegion>Braunschweig</wicri:noRegion>
<wicri:noRegion>Braunschweig</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name>
<affiliation wicri:level="1"><country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Human Genetics, Tygerberg Hospital, Tygerberg</wicri:regionArea>
<wicri:noRegion>Tygerberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Children's Hospital, Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Pediatric Genetics, Pellegrin‐Children's Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, Stanford</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</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>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam</wicri:regionArea>
<orgName type="university">Université d'Amsterdam</orgName>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">112</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="412">412</biblScope>
<biblScope unit="page" to="421">421</biblScope>
<biblScope unit="page-count">10</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2002-11-01">2002-11-01</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term>
<term>Abnormalities, Multiple (pathology)</term>
<term>Bibliographic review</term>
<term>Case study</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Concomitant disease</term>
<term>Consanguinity</term>
<term>Diagnosis, Differential</term>
<term>Family study</term>
<term>Female</term>
<term>Genes, Recessive (genetics)</term>
<term>Genetic determinism</term>
<term>Hennekam syndrome</term>
<term>Human</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (complications)</term>
<term>Intellectual Disability (pathology)</term>
<term>Karyotyping</term>
<term>Lymphangiectasis</term>
<term>Lymphangiectasis (complications)</term>
<term>Lymphangiectasis (pathology)</term>
<term>Lymphedema</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (pathology)</term>
<term>Male</term>
<term>Mental retardation</term>
<term>Pathogenesis</term>
<term>Phenotype</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Association morbide</term>
<term>Consanguinité</term>
<term>Déterminisme génétique</term>
<term>Etude cas</term>
<term>Etude familiale</term>
<term>Hennekam syndrome</term>
<term>Homme</term>
<term>Lymphangiectasie</term>
<term>Lymphoedème</term>
<term>Pathogénie</term>
<term>Phénotype</term>
<term>Revue bibliographique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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. © 2002 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<double idat="0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
<affiliation><inist:fA14 i1="01"><s1>Child-and Adolescent Psychiatry Clinic</s1>
<s2>Oranjestad, Dutch West Indies</s2>
<s3>ABW</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<wicri:noCountry>ABW</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Human Genetics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>2 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>3Children's Hospital of Eastern Ontario</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>3Children's Hospital of Eastern Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Pediatrics, Istituto G. Gaslini</s1>
<s2>Genova</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Children's Hospital</s1>
<s2>Braunschweig</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Braunschweig</wicri:noRegion>
<wicri:noRegion>Children's Hospital</wicri:noRegion>
<wicri:noRegion>Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Human Genetics, Tygerberg Hospital</s1>
<s2>Tygerberg</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
<wicri:noRegion>Tygerberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Children's Hospital</s1>
<s2>Hannover</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Pediatric Genetics, Pellegrin-Children's Hospital</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name>
<affiliation wicri:level="2"><inist:fA14 i1="09"><s1>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford</s1>
<s2>Stanford, California</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>3Children's Hospital of Eastern Ontario</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>3Children's Hospital of Eastern Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Pediatrics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</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>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Human Genetics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>2 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Pediatrics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">03-0022921</idno>
<date when="2002">2002</date>
<idno type="stanalyst">PASCAL 03-0022921 INIST</idno>
<idno type="RBID">Pascal:03-0022921</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000718</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000242</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000763</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000763</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:Area/Main/Merge">009C75</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
<affiliation><inist:fA14 i1="01"><s1>Child-and Adolescent Psychiatry Clinic</s1>
<s2>Oranjestad, Dutch West Indies</s2>
<s3>ABW</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<wicri:noCountry>ABW</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Human Genetics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>2 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>3Children's Hospital of Eastern Ontario</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>3Children's Hospital of Eastern Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Pediatrics, Istituto G. Gaslini</s1>
<s2>Genova</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Children's Hospital</s1>
<s2>Braunschweig</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Braunschweig</wicri:noRegion>
<wicri:noRegion>Children's Hospital</wicri:noRegion>
<wicri:noRegion>Children's Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Human Genetics, Tygerberg Hospital</s1>
<s2>Tygerberg</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
<wicri:noRegion>Tygerberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Children's Hospital</s1>
<s2>Hannover</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Pediatric Genetics, Pellegrin-Children's Hospital</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name>
<affiliation wicri:level="2"><inist:fA14 i1="09"><s1>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford</s1>
<s2>Stanford, California</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>3Children's Hospital of Eastern Ontario</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>3Children's Hospital of Eastern Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Pediatrics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</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>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute for Human Genetics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>2 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Pediatrics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bibliographic review</term>
<term>Case study</term>
<term>Concomitant disease</term>
<term>Consanguinity</term>
<term>Family study</term>
<term>Genetic determinism</term>
<term>Hennekam syndrome</term>
<term>Human</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
<term>Mental retardation</term>
<term>Pathogenesis</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Homme</term>
<term>Association morbide</term>
<term>Lymphangiectasie</term>
<term>Phénotype</term>
<term>Arriération mentale</term>
<term>Revue bibliographique</term>
<term>Etude cas</term>
<term>Consanguinité</term>
<term>Déterminisme génétique</term>
<term>Pathogénie</term>
<term>Etude familiale</term>
<term>Hennekam syndrome</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
</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>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8</idno>
<date when="2002" year="2002">2002</date>
<idno type="doi">10.1002/ajmg.10707</idno>
<idno type="url">https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004208</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004208</idno>
<idno type="wicri:Area/Istex/Curation">004208</idno>
<idno type="wicri:Area/Istex/Checkpoint">002616</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002616</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:12376947</idno>
<idno type="wicri:Area/PubMed/Corpus">004458</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004458</idno>
<idno type="wicri:Area/PubMed/Curation">004458</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004458</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004458</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004458</idno>
<idno type="wicri:Area/Ncbi/Merge">000B29</idno>
<idno type="wicri:Area/Ncbi/Curation">000B29</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000B29</idno>
<idno type="wicri:doubleKey">0148-7299:2002:Van Balkom I:lymphedema:lymphangiectasia:mental</idno>
<idno type="wicri:Area/Main/Merge">009A54</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title>
<author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name>
<affiliation><wicri:noCountry code="subField">Indies</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, Istituto G. Gaslini, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Children's Hospital, Braunschweig</wicri:regionArea>
<wicri:noRegion>Braunschweig</wicri:noRegion>
<wicri:noRegion>Braunschweig</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name>
<affiliation wicri:level="1"><country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Human Genetics, Tygerberg Hospital, Tygerberg</wicri:regionArea>
<wicri:noRegion>Tygerberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Children's Hospital, Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Pediatric Genetics, Pellegrin‐Children's Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, Stanford</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
</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>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:regionArea>
<wicri:noRegion>Academic Medical Center Amsterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam</wicri:regionArea>
<orgName type="university">Université d'Amsterdam</orgName>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">112</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="412">412</biblScope>
<biblScope unit="page" to="421">421</biblScope>
<biblScope unit="page-count">10</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2002-11-01">2002-11-01</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</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. © 2002 Wiley‐Liss, Inc.</div>
</front>
</TEI>
</ISTEX>
</double>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009673 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 009673 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Curation |type= RBID |clé= ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8 |texte= Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review }}
This area was generated with Dilib version V0.6.31. |