title: Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature.
abstract: Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Brazil.
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli-Júnior
authors.forename: Pedro Eleutério
authors.initials: PE
authors.lastname: dos Santos Neto
authors.forename: Sibele Nascimento
authors.initials: SN
authors.lastname: de Aquino
authors.forename: Carolina Carvalho
authors.initials: CC
authors.lastname: de Oliveira Santos
authors.forename: Sabina Pena
authors.initials: SP
authors.lastname: Borges
authors.forename: Eduardo Araujo
authors.initials: EA
authors.lastname: Oliveira
authors.forename: Marcio Ajudarte
authors.initials: MA
authors.lastname: Lopes
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000175:diagnosis*; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D008855:Microscopy, Electron, Scanning; D009397:Nephrocalcinosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D013577:Syndrome; D014070:Tooth / Q000473:pathology* / Q000648:ultrastructure; D014463:Ultrasonography