Meckel-Gruber Syndrome Associated with CNS Malformations – A Case Report
نویسندگان
چکیده
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterised by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. But clinically unsuspected or atypical features may be discovered at autopsy or pathological study. One such rare case, diagnosed by ultrasound scan at 21weeks of gestation was terminated and presented here for discussion, with its phenotypic manifestations detailed by autopsy and histo-pathological examination.
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A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
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