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Syndrome classification of hereditary lymphedema

Identifieur interne : 000648 ( PascalFrancis/Corpus ); précédent : 000647; suivant : 000649

Syndrome classification of hereditary lymphedema

Auteurs : K. A. Northup ; M. H. Witte ; C. L. Witte

Source :

RBID : Pascal:04-0176412

Descripteurs français

English descriptors

Abstract

Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0024-7766
A02 01      @0 LYMPBN
A03   1    @0 Lymphology
A05       @2 36
A06       @2 4
A08 01  1  ENG  @1 Syndrome classification of hereditary lymphedema
A11 01  1    @1 NORTHUP (K. A.)
A11 02  1    @1 WITTE (M. H.)
A11 03  1    @1 WITTE (C. L.)
A14 01      @1 Department of Surgery, University of Arizona College of Medicine @2 Tucson, Arizona @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut.
A20       @1 162-189
A21       @1 2003
A23 01      @0 ENG
A43 01      @1 INIST @2 14604 @5 354000119215670010
A44       @0 0000 @1 © 2004 INIST-CNRS. All rights reserved.
A45       @0 141 ref.
A47 01  1    @0 04-0176412
A60       @1 P
A61       @0 A
A64 01  1    @0 Lymphology
A66 01      @0 USA
C01 01    ENG  @0 Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.
C02 01  X    @0 002B12B04
C03 01  X  FRE  @0 Lymphoedème @5 01
C03 01  X  ENG  @0 Lymphedema @5 01
C03 01  X  SPA  @0 Linfedema @5 01
C03 02  X  FRE  @0 Maladie héréditaire @5 02
C03 02  X  ENG  @0 Genetic disease @5 02
C03 02  X  SPA  @0 Enfermedad hereditaria @5 02
C03 03  X  FRE  @0 Homme @5 18
C03 03  X  ENG  @0 Human @5 18
C03 03  X  SPA  @0 Hombre @5 18
C03 04  X  FRE  @0 Classification @5 20
C03 04  X  ENG  @0 Classification @5 20
C03 04  X  SPA  @0 Clasificación @5 20
C07 01  X  FRE  @0 Appareil circulatoire pathologie @5 37
C07 01  X  ENG  @0 Cardiovascular disease @5 37
C07 01  X  SPA  @0 Aparato circulatorio patología @5 37
C07 02  X  FRE  @0 Lymphatique pathologie @5 38
C07 02  X  ENG  @0 Lymphatic vessel disease @5 38
C07 02  X  SPA  @0 Linfático patología @5 38
N21       @1 117
N82       @1 PSI

Format Inist (serveur)

NO : PASCAL 04-0176412 INIST
ET : Syndrome classification of hereditary lymphedema
AU : NORTHUP (K. A.); WITTE (M. H.); WITTE (C. L.)
AF : Department of Surgery, University of Arizona College of Medicine/Tucson, Arizona/Etats-Unis (1 aut., 2 aut., 3 aut.)
DT : Publication en série; Niveau analytique
SO : Lymphology; ISSN 0024-7766; Coden LYMPBN; Etats-Unis; Da. 2003; Vol. 36; No. 4; Pp. 162-189; Bibl. 141 ref.
LA : Anglais
EA : Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.
CC : 002B12B04
FD : Lymphoedème; Maladie héréditaire; Homme; Classification
FG : Appareil circulatoire pathologie; Lymphatique pathologie
ED : Lymphedema; Genetic disease; Human; Classification
EG : Cardiovascular disease; Lymphatic vessel disease
SD : Linfedema; Enfermedad hereditaria; Hombre; Clasificación
LO : INIST-14604.354000119215670010
ID : 04-0176412

Links to Exploration step

Pascal:04-0176412

Le document en format XML

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