[Meckel Gruber syndrome a case report]

ABSTRACT

Meckel Gruber syndrome is a rare lethal autosomal recessive disorder characterized by a clinical and genetical heterogenicity. Currently, the diagnosis is based on some major criteria occipital meningo-encephalocele, bilateral polycystic displastic kidneys and postaxial polydactily. Prenatal diagnosis by a transvaginal ultrasound is possible at the 11th week of gestation justifying therapeutic abortion. The prevalence little valued in our country and the variability of the genes according to ethnics as well as their expression phenotypic in the same ethnic opens perspectives in the fundamental research as for the positioning of genes and the survey of their expression