Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully
characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian
families through clinical examination, imaging, renal ultrasonography, laboratory tests and
DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of
hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted
posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic …

Objective To investigate mutations in FAM20A of 11 unreported patients with ERS from 5
different Brazilian families. Study Design Clinical examination, imaging, renal
ultrasonography, laboratory tests and DNA sequencing were performed in 11 patients with
ERS. Results The patients' ages ranged from 6 to 25 years old, and the presence of
hypoplastic amelogenesis imperfecta, microdontia, spaced teeth, intrapulpal calcification,
impacted posterior teeth with hyperplastic pericoronal follicle, gingival fibromatosis, ectopic …