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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

Identifieur interne : 000763 ( PascalFrancis/Checkpoint ); précédent : 000762; suivant : 000764

Lymphedema-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 :

RBID : Pascal:03-0022921

Descripteurs français

English descriptors

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.


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Pascal:03-0022921

Le document en format XML

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<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>
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</fA14>
<fA14 i1="04">
<s1>Department of Pediatrics, Istituto G. Gaslini</s1>
<s2>Genova</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="05">
<s1>Children's Hospital</s1>
<s2>Braunschweig</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="06">
<s1>Department of Human Genetics, Tygerberg Hospital</s1>
<s2>Tygerberg</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07">
<s1>Children's Hospital</s1>
<s2>Hannover</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="08">
<s1>Department of Pediatric Genetics, Pellegrin-Children's Hospital</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="10">
<s1>Department of Pediatrics, Academic Medical Center Amsterdam</s1>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA20>
<s1>412-421</s1>
</fA20>
<fA21>
<s1>2002</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>17405</s2>
<s5>354000102095350180</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2003 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>44 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>03-0022921</s0>
</fA47>
<fA60>
<s1>P</s1>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>American journal of medical genetics</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B23E</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Lymphoedème</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Lymphedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Linfedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Homme</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Human</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Hombre</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Association morbide</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Concomitant disease</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Asociación morbosa</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Lymphangiectasie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Lymphangiectasis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Linfangiectasia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Phénotype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Phenotype</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Fenotipo</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Arriération mentale</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Mental retardation</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Retraso mental</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Revue bibliographique</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Bibliographic review</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Revista bibliográfica</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE">
<s0>Etude cas</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG">
<s0>Case study</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA">
<s0>Estudio caso</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE">
<s0>Consanguinité</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG">
<s0>Consanguinity</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA">
<s0>Consanguinidad</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE">
<s0>Déterminisme génétique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG">
<s0>Genetic determinism</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA">
<s0>Determinismo genético</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE">
<s0>Pathogénie</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG">
<s0>Pathogenesis</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA">
<s0>Patogenia</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE">
<s0>Etude familiale</s0>
<s5>13</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG">
<s0>Family study</s0>
<s5>13</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA">
<s0>Estudio familiar</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE">
<s0>Hennekam syndrome</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG">
<s0>Hennekam syndrome</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Appareil circulatoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Lymphatique pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Maladie héréditaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Genetic disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Enfermedad hereditaria</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Déficience intellectuelle</s0>
<s5>53</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Intellectual deficiency</s0>
<s5>53</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Deficiencia intelectual</s0>
<s5>53</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Trouble développement</s0>
<s5>54</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Developmental disorder</s0>
<s5>54</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Trastorno desarrollo</s0>
<s5>54</s5>
</fC07>
<fN21>
<s1>013</s1>
</fN21>
<fN82>
<s1>PSI</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Afrique du Sud</li>
<li>Allemagne</li>
<li>Canada</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region>
<li>Aquitaine</li>
<li>Basse-Saxe</li>
<li>Californie</li>
<li>Nouvelle-Aquitaine</li>
</region>
<settlement>
<li>Bordeaux</li>
<li>Hanovre</li>
</settlement>
</list>
<tree>
<noCountry>
<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>
</noCountry>
<country name="Pays-Bas">
<noRegion>
<name sortKey="Alders, Mariel" sort="Alders, Mariel" uniqKey="Alders M" first="Mariel" last="Alders">Mariel Alders</name>
</noRegion>
<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>
<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>
<name sortKey="Wijburg, Frits" sort="Wijburg, Frits" uniqKey="Wijburg F" first="Frits" last="Wijburg">Frits Wijburg</name>
</country>
<country name="Canada">
<noRegion>
<name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
</noRegion>
<name sortKey="Rowe, Peter" sort="Rowe, Peter" uniqKey="Rowe P" first="Peter" last="Rowe">Peter Rowe</name>
</country>
<country name="Italie">
<noRegion>
<name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name>
</noRegion>
</country>
<country name="Allemagne">
<noRegion>
<name sortKey="Frank, Ulrich" sort="Frank, Ulrich" uniqKey="Frank U" first="Ulrich" last="Frank">Ulrich Frank</name>
</noRegion>
<name sortKey="Kolbe, Ingeborg" sort="Kolbe, Ingeborg" uniqKey="Kolbe I" first="Ingeborg" last="Kolbe">Ingeborg Kolbe</name>
</country>
<country name="Afrique du Sud">
<noRegion>
<name sortKey="De Jong, Greetje" sort="De Jong, Greetje" uniqKey="De Jong G" first="Greetje" last="De Jong">Greetje De Jong</name>
</noRegion>
</country>
<country name="France">
<region name="Nouvelle-Aquitaine">
<name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
</region>
</country>
<country name="États-Unis">
<region name="Californie">
<name sortKey="Rockson, Stan" sort="Rockson, Stan" uniqKey="Rockson S" first="Stan" last="Rockson">Stan Rockson</name>
</region>
</country>
</tree>
</affiliations>
</record>

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   |texte=   Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review
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