Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review
Identifieur interne : 004208 ( Istex/Curation ); précédent : 004207; suivant : 004209Lymphedema–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.
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.
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DOI: 10.1002/ajmg.10707
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Inge D. C. Van Balkom<affiliation><mods:affiliation>Child‐ and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies</mods:affiliation><wicri:noCountry code="subField">Indies</wicri:noCountry></affiliation>Le document en format XML
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M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation wicri:level="1"><mods:affiliation>Institute for Human Genetics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Institute for Human Genetics, Academic Medical Center Amsterdam</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Academic Medical Center Amsterdam, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Academic Medical Center Amsterdam</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, University of Amsterdam, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.</mods:affiliation><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></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></record>Pour manipuler ce document sous Unix (Dilib)
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