Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature)
Vernekar, J.A.; Mishra, G.K.; Pinto, R.G.; Bhandari, M.; Mishra, M.
Australasian Radiology 35(2): 186-188
1991
ISSN/ISBN: 0004-8461 PMID: 1930022 Document Number: 378838
Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.