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

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dc.contributor.authorVan Balkom I.D.C.
dc.contributor.authorAlders M.
dc.contributor.authorAllanson J.
dc.contributor.authorBellini C.
dc.contributor.authorFrank U.
dc.contributor.authorDe Jong G.
dc.contributor.authorKolbe I.
dc.contributor.authorLacombe D.
dc.contributor.authorRockson S.
dc.contributor.authorRowe P.
dc.contributor.authorWijburg F.
dc.contributor.authorHennekam R.C.M.
dc.date.accessioned2011-05-15T16:15:21Z
dc.date.available2011-05-15T16:15:21Z
dc.date.issued2002
dc.description.abstractThe 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.
dc.description.versionReview
dc.identifier.citationAmerican Journal of Medical Genetics
dc.identifier.citation112
dc.identifier.citation4
dc.identifier.issn01487299
dc.identifier.other10.1002/ajmg.10707
dc.identifier.urihttp://hdl.handle.net/10019.1/13298
dc.subjectautosomal recessive inheritance
dc.subjectclinical article
dc.subjectcongenital blood vessel malformation
dc.subjectcongenital heart disease
dc.subjectconvulsion
dc.subjecterysipelas
dc.subjectface malformation
dc.subjectfemale
dc.subjectglaucoma
dc.subjecthearing loss
dc.subjecthennekam syndrome
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectinfant
dc.subjectkidney malformation
dc.subjectlymphangiectasis
dc.subjectlymphedema
dc.subjectmale
dc.subjectmental deficiency
dc.subjectpathogenesis
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectpsychomotor development
dc.subjectreview
dc.subjectsyndrome
dc.subjecttooth malformation
dc.subjectAbnormalities, Multiple
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDiagnosis, Differential
dc.subjectFemale
dc.subjectGenes, Recessive
dc.subjectHumans
dc.subjectInfant
dc.subjectKaryotyping
dc.subjectLymphangiectasis
dc.subjectLymphedema
dc.subjectMale
dc.subjectMental Retardation
dc.subjectSyndrome
dc.subjectHydrops
dc.titleLymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review
dc.typeReview
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