Meckel Gruber’s Syndrome with Situs Inversus: A Case Report with Literature Review


Article Type: Case Report
Authors: Sendhil Coumary A, Kalaiselvi Babu

Abstract

Meckel Gruber’s syndrome is a rare autosomal recessive syndrome which manifests as occipital meningoencephalocele, bilateral cystic kidneys and postaxial polydactyly. Here, we present a different case of Meckel’s with situs inversus totalis without occipital meningoencephalocele. It is, important to make a prenatal diagnosis and to counsel the parents regarding the prognosis of the present pregnancy and chances of recurrence in future pregnancies. Meckel’s can be detected by ultrasound as early as 14 weeks. Differentiating Meckel’s from other syndromes like Trisomy 13, diabetic embryopathy and other ciliopathiesassociated syndromes can be better done with fetal autopsy and genetic testing.

Keywords: Meckel Gruber syndrome, Situs inversus, Postaxial polydactyly, Cystic kidneys.
Issue Number: 2   May - August 2023
Pages: 30 - 57
DOI:
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