Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review
Identifieur interne : 004208 ( Istex/Corpus ); précédent : 004207; suivant : 004209Lymphedema–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 ] ; 2002-11-01.
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
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C." last="Van Balkom">Inge D. C. Van Balkom</name><affiliation><mods:affiliation>Child‐ and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies</mods:affiliation></affiliation></author><author><name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name><affiliation><mods:affiliation>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name><affiliation><mods:affiliation>Children's Hospital of Eastern Ontario, Ottawa, Canada</mods:affiliation></affiliation></author><author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name><affiliation><mods:affiliation>Department of Pediatrics, Istituto G. Gaslini, Genova, Italy</mods:affiliation></affiliation></author><author><name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name><affiliation><mods:affiliation>Children's Hospital, Braunschweig, Germany</mods:affiliation></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><mods:affiliation>Department of Human Genetics, Tygerberg Hospital, Tygerberg, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name><affiliation><mods:affiliation>Children's Hospital, Hannover, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><mods:affiliation>Department of Pediatric Genetics, Pellegrin‐Children's Hospital, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name><affiliation><mods:affiliation>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, Stanford, California</mods:affiliation></affiliation></author><author><name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name><affiliation><mods:affiliation>Children's Hospital of Eastern Ontario, Ottawa, Canada</mods:affiliation></affiliation></author><author><name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name><affiliation><mods:affiliation>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation></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><mods:affiliation>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.</mods:affiliation></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></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><corpusName>wiley</corpusName><keywords><teeft><json:string>lymphedema</json:string><json:string>hennekam</json:string><json:string>lymphangiectasia</json:string><json:string>genet</json:string><json:string>lymphatic</json:string><json:string>autosomal</json:string><json:string>intestinal</json:string><json:string>centile</json:string><json:string>recessive</json:string><json:string>syndrome</json:string><json:string>anomaly</json:string><json:string>gabrielli</json:string><json:string>noonan</json:string><json:string>congenital</json:string><json:string>noonan syndrome</json:string><json:string>hennekam syndrome</json:string><json:string>congenital 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Gaslini, Genova, Italy</json:string></affiliations></json:item><json:item><name>Ulrich Frank</name><affiliations><json:string>Children's Hospital, Braunschweig, Germany</json:string></affiliations></json:item><json:item><name>Greetje De Jong</name><affiliations><json:string>Department of Human Genetics, Tygerberg Hospital, Tygerberg, South Africa</json:string></affiliations></json:item><json:item><name>Ingeborg Kolbe</name><affiliations><json:string>Children's Hospital, Hannover, Germany</json:string></affiliations></json:item><json:item><name>Didier Lacombe</name><affiliations><json:string>Department of Pediatric Genetics, Pellegrin‐Children's Hospital, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Stan Rockson</name><affiliations><json:string>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, Stanford, California</json:string></affiliations></json:item><json:item><name>Peter Rowe</name><affiliations><json:string>Children's Hospital of Eastern Ontario, Ottawa, Canada</json:string></affiliations></json:item><json:item><name>Frits Wijburg</name><affiliations><json:string>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Raoul C.M. Hennekam</name><affiliations><json:string>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands</json:string><json:string>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands</json:string><json:string>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>lymphedema</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>lymphangiectasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mental retardation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>lymphatic dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hydrops</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>congenital heart defects</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>angiodysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glaucoma</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>autosomal recessive</value></json:item></subject><articleId><json:string>AJMG10707</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>reviewArticle</json:string></originalGenre><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.</abstract><qualityIndicators><score>7.988</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1734</abstractCharCount><pdfWordCount>5762</pdfWordCount><pdfCharCount>39231</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>249</abstractWordCount></qualityIndicators><title>Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title><genre><json:string>review-article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>112</volume><issue>4</issue><pages><first>412</first><last>421</last><total>10</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Research Review</value></json:item></subject></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>2002</publicationDate><copyrightDate>2002</copyrightDate><doi><json:string>10.1002/ajmg.10707</json:string></doi><id>8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 2002 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2002-11-01"></date></publicationStmt><notesStmt><note type="content-type" subtype="review-article" source="reviewArticle" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-L5L7X3NF-P">review-article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="review-article"><analytic><title level="a" type="main" xml:lang="en">Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review</title><title level="a" type="short" xml:lang="en">Lymphedema–Lymphangiectasia–Mental Retardation</title><author xml:id="author-0000"><persName><forename type="first">Inge D.C.</forename><surname>Van Balkom</surname></persName><affiliation>Child‐ and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies<address><country key="AG"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Mariel</forename><surname>Alders</surname></persName><affiliation>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Judith</forename><surname>Allanson</surname></persName><affiliation>Children's Hospital of Eastern Ontario, Ottawa, Canada<address><country key="CA"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Carlo</forename><surname>Bellini</surname></persName><affiliation>Department of Pediatrics, Istituto G. Gaslini, Genova, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Ulrich</forename><surname>Frank</surname></persName><affiliation>Children's Hospital, Braunschweig, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Greetje</forename><surname>De Jong</surname></persName><affiliation>Department of Human Genetics, Tygerberg Hospital, Tygerberg, South Africa<address><country key="ZM"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Ingeborg</forename><surname>Kolbe</surname></persName><affiliation>Children's Hospital, Hannover, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Didier</forename><surname>Lacombe</surname></persName><affiliation>Department of Pediatric Genetics, Pellegrin‐Children's Hospital, Bordeaux, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">Stan</forename><surname>Rockson</surname></persName><affiliation>Cardiovascular Center for Lymphatic and Venous Disorders, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, Stanford, California<address><country key="US"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Peter</forename><surname>Rowe</surname></persName><affiliation>Children's Hospital of Eastern Ontario, Ottawa, Canada<address><country key="CA"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Frits</forename><surname>Wijburg</surname></persName><affiliation>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0011" role="corresp"><persName><forename type="first">Raoul C.M.</forename><surname>Hennekam</surname></persName><email>r.c.hennekam@amc.uva.nl</email><affiliation>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.</affiliation></author><idno type="istex">8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8</idno><idno type="DOI">10.1002/ajmg.10707</idno><idno type="unit">AJMG10707</idno><idno type="toTypesetVersion">file:AJMG.AJMG10707.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v112:4</idno><idno type="product">AJMG</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"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>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.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">lymphedema</term><term xml:id="kwd2">lymphangiectasia</term><term xml:id="kwd3">mental retardation</term><term xml:id="kwd4">lymphatic dysplasia</term><term xml:id="kwd5">hydrops</term><term xml:id="kwd6">congenital heart defects</term><term xml:id="kwd7">angiodysplasia</term><term xml:id="kwd8">glaucoma</term><term xml:id="kwd9">autosomal recessive</term></keywords><classCode scheme="articleCategory">Research Review</classCode><classCode scheme="tocHeading1">Research Reviews</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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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. 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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.</abstract><subject lang="en"><genre>keywords</genre><topic>lymphedema</topic><topic>lymphangiectasia</topic><topic>mental retardation</topic><topic>lymphatic dysplasia</topic><topic>hydrops</topic><topic>congenital heart defects</topic><topic>angiodysplasia</topic><topic>glaucoma</topic><topic>autosomal recessive</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. 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|texte= Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review
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