faculty

Publications

Troublesome Teeth, Search for Stones – Enamel-Renal Syndrome

Groups and Associations Reddy, Soumya; Arumugam, Niranjana1; Iyengar, Aparna
Indian Pediatrics Case Reports 2023

Enamel-renal syndrome (ERS), is a rare autosomal recessive disorder involving family with sequence similarity 20 member A (FAM20A) gene. This unique syndrome is characterized by severe enamel hypoplasia, intrapulpal calcification, nephrocalcinosis, or nephrolithiasis. This case report highlights the early presentation and incidental detection of chronic kidney disease (CKD) in a young child with enamel defects.