A Rare Case of Meckel?Gruber Syndrome

Sushila Kharhwal, Sanjaya Sharma, Juhi Deshpande

Abstract: Meckel syndrome is a lethal, ciliopathic, genetic disorder, characterized by triad of renal cystic dysplasia, central nervous system malformations (occipital encephalocele) and polydactyly (post axial). Pulmonary hypoplasia due to oligohydramnios is also seen. It is rare disorder prevalence is <1/million and incidence is 1 in 13, 250-1, 40, 000 live births. Recently we saw a case of Meckels syndrome (MS) baby delivered in our Unit. In this case, antenatal ultrasonagraphy revealed abnormalities indicative of minimal hydrocephalous, occipital encephalocele, hypoplastic limbs and ascites. Face was not clearly visualized. Upon delivery, baby showed hydrocephalous, shortened limbs with polydactyly, facial deformities supporting MS.

Keywords: Occipital encephalocele, polydactyly, renal cystic dysplasia