Gruber Meckel's Syndrome

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. It is necessary to promote prenatal diagnosis of congenital malformations in order to provide adequate treatment, reduce their prevalence, mortality, secondary disability and prepare the health care team to deal with these cases.

Autorentext

Alex Fabian Villa Quigüirí, medico generico laureato presso l'Universidad Nacional De Chimborazo (Riobamba-Chimborazo-Ecuador); esperienza professionale presso l'Ospedale José María Velasco Ibarra (Tena-Napo-Ecuador); Puesto de Salud Yamanunca (Shushufindi-Sucumbios-Ecuador). Attualmente è medico residente presso l'Ospedale José María Velasco Ibarra.