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Síndrome de Gruber Meckel

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Book Details
Language
Portuguese
Publishers
Edições Nosso Conhecimento (11 Jan. 2024)
Weight
0.09 KG
Publication Date
11/01/2024
ISBN-10
6207036107
Pages
52 pages
ISBN-13
9786207036103
Dimensions
15 x 0.3 x 22 cm
SKU
9786207036103
Author Name
Alex Villa (Author)
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A síndrome de Meckel Gruber é uma ciliopatia, uma doença autossómica recessiva fatal, multissistémica, que pode afetar indivíduos de todas as raças e etnias. Também designada por disencefalia esplaknocística ou síndrome cerebrorenodigital.

Síndrome caracterizado pela tríade clássica: rins policísticos hiperplásicos policísticos (100 % dos casos), encefalocele occipital (90 % dos casos) e polidactilia pós-axial (menos de 80 % dos casos), entidade geralmente diagnosticada por ecografia no segundo ou terceiro trimestre de gravidez. É necessário promover o diagnóstico pré-natal das malformações congénitas, a fim de proporcionar um tratamento adequado, reduzir a sua prevalência, mortalidade e incapacidade secundária e preparar a equipa de cuidados de saúde para lidar com estes casos.

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