Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
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.
de Silva
M V C
MV
Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Colombo. chandudesilva@yahoo.co.uk
Senanayake
H
H
Siriwardana
K D V P
KD
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004677:Encephalocele / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics*; D013577:Syndrome