Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature).
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.
Department of Radio-diagnosis, Goa Medical College, Panjim-Goa, India.
J A
JA
Vernekar
G K
GK
Mishra
R G
RG
Pinto
M
M
Bhandari
M
M
Mishra
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal