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

Identifieur interne : 000660 ( France/Analysis ); précédent : 000659; suivant : 000661

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 : ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8

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. © 2002 Wiley‐Liss, Inc.

Url:
DOI: 10.1002/ajmg.10707


Affiliations:


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Links to Exploration step

ISTEX:8C3EAF2C3F1C3DA3422240BB6B178162C668DEF8

Le document en format XML

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<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>
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<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gènes récessifs (génétique)</term>
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<term>Lymphoedème ()</term>
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<term>Lymphangiectasis</term>
<term>Lymphedema</term>
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<term>Intellectual Disability</term>
<term>Lymphangiectasis</term>
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<term>Child, Preschool</term>
<term>Diagnosis, Differential</term>
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<term>Enfant d'âge préscolaire</term>
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<term>Lymphangiectasie</term>
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<term>Déterminisme génétique</term>
<term>Etude cas</term>
<term>Etude familiale</term>
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<term>Lymphoedème</term>
<term>Pathogénie</term>
<term>Phénotype</term>
<term>Revue bibliographique</term>
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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. © 2002 Wiley‐Liss, Inc.</div>
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