Gruber Meckel's Syndrome - Alex Villa

Meckel Gruber syndrome is a ciliopathy, a fatal autosomal recessive, multisystemic disorder, which can affect individuals of all races and ethnicities. Also called splaknocystic dysencephaly or cerebrorenodigital syndrome. Syndrome characterised by the classic triad: polycystic hyperplastic polycystic kidneys (100 % of cases), occipital encephalocele (90 % of cases) and postaxial polydactyly (less than 80 % of cases), an entity usually diagnosed by ultrasound in the second or third trimester of pregnancy...