1.
Ceylon Med J
;
2004 Mar; 49(1): 30-1
Article
Dans Anglais
| IMSEAR
| ID: sea-47389
Résumé
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.
Sujets)
Malformations multiples/génétique , Consanguinité , Encéphalocèle/génétique , Femelle , Mort foetale/génétique , Humains , Nouveau-né , Mâle , Polykystoses rénales/génétique , Polydactylie/génétique , Syndrome
2.
Ceylon Med J
;
2001 Jun; 46(2): 68
Article
Dans Anglais
| IMSEAR
| ID: sea-48099