2012/01/01 by C Panduranga, Ranjit Kangle, Rajshree Badami +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic and Kidney Cyst Diseases #Renal and related cancers #Pediatric Hepatobiliary Diseases and Treatments
paper · pdf · doi:10.4103/0976-3147.91943
openalex publication_date 2012/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/11
Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.