Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
Ceylon Med J
;
2004 Mar; 49(1): 30-1
Article
Dans Anglais
| IMSEAR
| ID: sea-47389
ABSTRACT
Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Syndrome
/
Malformations multiples
/
Femelle
/
Humains
/
Mâle
/
Nouveau-né
/
Polydactylie
/
Consanguinité
/
Encéphalocèle
/
Mort foetale
langue:
Anglais
Texte intégral:
Ceylon Med J
Année:
2004
Type:
Article
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