Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
Ceylon Med J
;
2004 Mar; 49(1): 30-1
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome
/
Anormalidades Múltiplas
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
/
Polidactilia
/
Consanguinidade
/
Encefalocele
/
Morte Fetal
Idioma:
Inglês
Revista:
Ceylon Med J
Ano de publicação:
2004
Tipo de documento:
Artigo
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