Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica): A case report with prenatal diagnosis and postmortem evaluation

Abstract

Because of the automosal recessive inheritance of disorder, prenatal diagnosis is quite important for genetic counselling of affected gestations in Meckel-Gruber Syndrome(MGS). We report a case of MGS presumptively diagnosed in midpregnancy by sonogpaphy. In postmortem evaluation occipital encephalocoele, low-set ears, flat nasal bridge, bilateral polycystic kidneys, hepatomegaly, and absence of atria in heart were confirmed the diagnosis. The chromosomal analysis was normal, 46 XX. The objective of this paper is to emphasize the importance of diagnosis prenatally and postmortem evaluation, and also review different variations of malformations of MGS.