LymphedemaV1, PascalFrancis, Curation, bibRecord, 001052

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Identifieur interne : 001052 ( PascalFrancis/Curation ); précédent : 001051; suivant : 001053

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Auteurs : S. Strenge [Allemagne] ; U. G. Froster [Allemagne]

Source :

American journal of medical genetics [ 0148-7299 ] ; 1998.

RBID : Pascal:99-0047458

Descripteurs français

Pascal (Inist)
- Microcéphalie, Association, Lymphoedème, Taille corporelle, Phénotype, Hérédité, Etude familiale, Etude cas, Homme.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Association, Body size, Case study, Family study, Human, Inheritance(genetics), Lymphedema, Microcephaly, Phenotype.

Abstract

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.

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A03		`1`		`@0 Am. j. med. genet.`
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A08	`01`	`1`	`ENG`	`@1 Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation`
A11	`01`	`1`		`@1 STRENGE (S.)`
A11	`02`	`1`		`@1 FROSTER (U. G.)`
A14	`01`			`@1 Institut für Humangenetik, Universität Leipzig @2 Leipzig @3 DEU @Z 1 aut. @Z 2 aut.`
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C01	`01`		`ENG`	`@0 Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.`
C02	`01`	`X`		`@0 002B23E`
C03	`01`	`X`	`FRE`	`@0 Microcéphalie @5 01`
C03	`01`	`X`	`ENG`	`@0 Microcephaly @5 01`
C03	`01`	`X`	`SPA`	`@0 Microcefalia @5 01`
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C03	`02`	`X`	`ENG`	`@0 Association @5 02`
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C03	`03`	`X`	`SPA`	`@0 Linfedema @5 04`
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C03	`04`	`X`	`SPA`	`@0 Talla corporal @5 05`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 06`
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C07	`02`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Encéphale pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Maladie congénitale @5 40`
C07	`04`	`X`	`ENG`	`@0 Congenital disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Enfermedad congénita @5 40`
C07	`05`	`X`	`FRE`	`@0 Malformation @5 41`
C07	`05`	`X`	`ENG`	`@0 Malformation @5 41`
C07	`05`	`X`	`SPA`	`@0 Malformación @5 41`
C07	`06`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 45`
C07	`06`	`X`	`ENG`	`@0 Cardiovascular disease @5 45`
C07	`06`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 45`
C07	`07`	`X`	`FRE`	`@0 Lymphatique pathologie @5 46`
C07	`07`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 46`
C07	`07`	`X`	`SPA`	`@0 Linfático patología @5 46`
C07	`08`	`X`	`FRE`	`@0 Système ostéoarticulaire pathologie @5 47`
C07	`08`	`X`	`ENG`	`@0 Diseases of the osteoarticular system @5 47`
C07	`08`	`X`	`SPA`	`@0 Sistema osteoarticular patología @5 47`
C07	`09`	`X`	`FRE`	`@0 Syndrome complexe @5 48`
C07	`09`	`X`	`ENG`	`@0 Complex syndrome @5 48`
C07	`09`	`X`	`SPA`	`@0 Síndrome complejo @5 48`
C07	`10`	`X`	`FRE`	`@0 Maladie héréditaire @5 49`
C07	`10`	`X`	`ENG`	`@0 Genetic disease @5 49`
C07	`10`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 49`
C07	`11`	`X`	`FRE`	`@0 Génétique @5 50`
C07	`11`	`X`	`ENG`	`@0 Genetics @5 50`
C07	`11`	`X`	`SPA`	`@0 Genética @5 50`
N21				`@1 025`

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Le document en format XML

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{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:99-0047458
   |texte=   Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation
}}

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Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

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Abstract

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