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Meckel gruber syndrome

Authors:Gaurav Sharma, Rita Ghode
Int J Biol Med Res. 2015; 6(4): 5282-5284  |  PDF File


ABSTRACT The ciliopathies are a group of related inherited diseases characterized by malformation in organ development affecting multiple organ systems with kidney, skeleton and brain malformations frequently observed with abnormality of primary cilia, essentially sensory organelles. Meckel Gruber Syndrome is a rare autosomal recessive most severe lethal ciliopathies caused by the failure of mesodermal induction. It is characterized by classic triad of cystic dysplastic kidneys, occipital encephalocele and post axial polydactyly with pulmonary hypoplasia as commonest cause for death. Antenatal ultrasound can establish the correct diagnosis by identifying at least two of the major described features. The incidence is highest in Indian Gujarati and Finnish populations. We report this rare case in non Gujarati Indian diagnosed on antenatal ultrasound.