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Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects

Identifieur interne : 000706 ( Main/Exploration ); précédent : 000705; suivant : 000707

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects

Auteurs : Armand Biver [Belgique] ; Sabine De Rijcke [Belgique] ; Veronique Toppet [Belgique] ; Marguerite Ledoux-Gorbusier [Belgique] ; Lionel Van Maldergem [Belgique]

Source :

RBID : ISTEX:EF0194FD0823FD8D7591F3DAD9DC2EAF4EB04454

English descriptors

Abstract

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy‐Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.

Url:
DOI: 10.1111/j.1399-0004.1994.tb04040.x


Affiliations:


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


Le document en format XML

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<name sortKey="Ledoux Orbusier, Marguerite" sort="Ledoux Orbusier, Marguerite" uniqKey="Ledoux Orbusier M" first="Marguerite" last="Ledoux-Gorbusier">Marguerite Ledoux-Gorbusier</name>
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<div type="abstract" xml:lang="en">We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy‐Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.</div>
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<name sortKey="De Rijcke, Sabine" sort="De Rijcke, Sabine" uniqKey="De Rijcke S" first="Sabine" last="De Rijcke">Sabine De Rijcke</name>
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