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Syndrome de Gruber-Meckel

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Book Details
Language
French
Publishers
Editions Notre Savoir (11 Jan. 2024)
Weight
0.09 KG
Publication Date
11/01/2024
ISBN-10
6207036085
Pages
52 pages
ISBN-13
9786207036080
Dimensions
15 x 0.3 x 22 cm
SKU
9786207036080
Author Name
Alex Villa (Author)
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Le syndrome de Meckel Gruber est une ciliopathie, une maladie autosomique récessive mortelle, multisystémique, qui peut toucher des individus de toutes les races et de toutes les ethnies. Également appelé dysencéphalie splaknocystique ou syndrome cérébro-nodigital.

Syndrome caractérisé par la triade classique : reins polykystiques hyperplasiques (100 % des cas), encéphalocèle occipitale (90 % des cas) et polydactylie postaxiale (moins de 80 % des cas), entité généralement diagnostiquée par échographie au cours du deuxième ou du troisième trimestre de la grossesse. Il est nécessaire de promouvoir le diagnostic prénatal des malformations congénitales afin de fournir un traitement adéquat, de réduire leur prévalence, la mortalité, les handicaps secondaires et de préparer l'équipe soignante à faire face à ces cas.

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