Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
Ceylon Med J
;
2004 Mar; 49(1): 30-1
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Abnormalities, Multiple
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Polydactyly
/
Consanguinity
/
Encephalocele
/
Fetal Death
Language:
English
Journal:
Ceylon Med J
Year:
2004
Type:
Article
Similar
MEDLINE
...
LILACS
LIS