Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive disorder that is characterized by typical ultrasonographical (USG) findings including encephalocele, polydactyly and cystic dysplastic kidneys. In this article we report an antenatally detected MGS with a review of the literature. A 28 year-old multigravida (G7P3L3) presented with 14 weeks of gestation for routine antenatal examination. The mother had had a second degree intermarriage, and two previous pregnancies were learned to be terminated due to MGS. The USG showed occipital encephalocele, polydactyly, oligohydramnios and bilateral renal cystic dysplasia. After detecting the fetal karyotype as 46,XY, termination of pregnancy was performed. In the histopathological examination, encephalocele, polydactyly and bilateral dysplastic kidneys were observed and diagnosis of MGS was confirmed. In cases with MGS, parents should be informed about the fetal prognosis and the recurrence risk for the next pregnancies.
Key words: Meckel Gruber Syndrome, prenatal ultrasonography
|
