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Gruber Meckel's Syndrome

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(130 available)
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Book Details
Language
English
Publishers
Our Knowledge Publishing (11 Jan. 2024)
Weight
0.09 KG
Publication Date
11/01/2024
ISBN-10
6207036077
Pages
52 pages
ISBN-13
9786207036073
Dimensions
15 x 0.3 x 22 cm
SKU
9786207036073
Author Name
Alex Villa (Author)
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Meckel Gruber syndrome is a ciliopathy, a fatal autosomal recessive, multisystemic disorder, which can affect individuals of all races and ethnicities. Also called splaknocystic dysencephaly or cerebrorenodigital syndrome.

Syndrome characterised by the classic triad: polycystic hyperplastic polycystic kidneys (100 % of cases), occipital encephalocele (90 % of cases) and postaxial polydactyly (less than 80 % of cases), an entity usually diagnosed by ultrasound in the second or third trimester of pregnancy. It is necessary to promote prenatal diagnosis of congenital malformations in order to provide adequate treatment, reduce their prevalence, mortality, secondary disability and prepare the health care team to deal with these cases.

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