LymphedemaV1, PascalFrancis, Curation, bibRecord, 000716

Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?

Identifieur interne : 000716 ( PascalFrancis/Curation ); précédent : 000715; suivant : 000717

Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?

Auteurs : Mary C. O'Driscoll [Royaume-Uni] ; Kim Jenny [États-Unis] ; Sulagna Saitta [États-Unis] ; William B. Dobyns [États-Unis] ; Karen W. Gripp [États-Unis]

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2010.

RBID : Pascal:10-0330939

Descripteurs français

Pascal (Inist)
- Agénésie, Lymphoedème, Trouble du développement, Malformation, Corps calleux, Congénital, Sacrum.

English descriptors

KwdEn :
- Agenesis, Congenital, Corpus callosum, Developmental disorder, Lymphedema, Malformation, Sacrum.

Abstract

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

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A03		`1`		`@0 Am. j. med. genet., Part A`
A05				`@2 152`
A06				`@2 7`
A08	`01`	`1`	`ENG`	`@1 Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?`
A11	`01`	`1`		`@1 O'DRISCOLL (Mary C.)`
A11	`02`	`1`		`@1 JENNY (Kim)`
A11	`03`	`1`		`@1 SAITTA (Sulagna)`
A11	`04`	`1`		`@1 DOBYNS (William B.)`
A11	`05`	`1`		`@1 GRIPP (Karen W.)`
A14	`01`			`@1 Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital @2 Manchester @3 GBR @Z 1 aut.`
A14	`02`			`@1 Division of Medical Genetics, Alfred I. DuPont Hospital for Children @2 Wilmington, Delaware @3 USA @Z 2 aut. @Z 5 aut.`
A14	`03`			`@1 Clinical Genetics Center, Children's Hospital of Philadelphia @2 Philadelphia, Pennsylvania @3 USA @Z 3 aut.`
A14	`04`			`@1 Departments of Human Genetics, Neurology and Pediatrics, The University of Chicago @2 Chicago, Illinois @3 USA @Z 4 aut.`
A20				`@1 1621-1626`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 17405A @5 354000181784840030`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 1 p.`
A47	`01`	`1`		`@0 10-0330939`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 American journal of medical genetics. Part A`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	@0 We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.
C02	`01`	`X`		`@0 002B23`
C02	`02`	`X`		`@0 002B12B04`
C03	`01`	`X`	`FRE`	`@0 Agénésie @5 01`
C03	`01`	`X`	`ENG`	`@0 Agenesis @5 01`
C03	`01`	`X`	`SPA`	`@0 Agenesia @5 01`
C03	`02`	`X`	`FRE`	`@0 Lymphoedème @5 02`
C03	`02`	`X`	`ENG`	`@0 Lymphedema @5 02`
C03	`02`	`X`	`SPA`	`@0 Linfedema @5 02`
C03	`03`	`X`	`FRE`	`@0 Trouble du développement @5 03`
C03	`03`	`X`	`ENG`	`@0 Developmental disorder @5 03`
C03	`03`	`X`	`SPA`	`@0 Trastorno desarrollo @5 03`
C03	`04`	`X`	`FRE`	`@0 Malformation @5 09`
C03	`04`	`X`	`ENG`	`@0 Malformation @5 09`
C03	`04`	`X`	`SPA`	`@0 Malformación @5 09`
C03	`05`	`X`	`FRE`	`@0 Corps calleux @5 10`
C03	`05`	`X`	`ENG`	`@0 Corpus callosum @5 10`
C03	`05`	`X`	`SPA`	`@0 Cuerpo calloso @5 10`
C03	`06`	`X`	`FRE`	`@0 Congénital @5 11`
C03	`06`	`X`	`ENG`	`@0 Congenital @5 11`
C03	`06`	`X`	`SPA`	`@0 Congénito @5 11`
C03	`07`	`X`	`FRE`	`@0 Sacrum @5 12`
C03	`07`	`X`	`ENG`	`@0 Sacrum @5 12`
C03	`07`	`X`	`SPA`	`@0 Sacro @5 12`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @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 Pathologie des vaisseaux lymphatiques @5 38`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 38`
N21				`@1 214`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:10-0330939

Le document en format XML

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<front><div type="abstract" xml:lang="en">We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.</div>
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Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?

Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri