title: Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family.
abstract: A rare syndrome associating amelogenesis imperfecta (AI) with nephrocalcinosis has been reported. The purpose of this study is to characterise the phenotype of a consanguineous family presenting amelogenesis imperfecta, delayed permanent teeth eruption and nephrocalcinosis. Six family members were examined. Ground sections of the case index deciduous teeth and biopsies of enlarged dental follicles were analysed. The patients's parents were first cousins. The case index had yellow discoloration and altered teeth shapes, retention of deciduous teeth, and delayed eruption. Panoramic radiographs revealed multiple enlarged pericoronal follicles in unerupted teeth and generalised intrapulpal calcifications. Renal ultrasound showed the presence of nephrocalcinosis. No other family members presented enamel defects or nephrocalcinosis. Histologically, the enamel appeared hypoplastic, and dental follicles indicated pericoronal hamartoma. The consanguineous marriage suggests an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect behind this syndrome that associates AI, nephrocalcinosis and impaired tooth eruption.
authors.affiliation: Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, SMDB Conjunto 29, Lote 3, Lago Sul, Brasilia 71680-290, DF, Brazil. paula20@unb.br
authors.forename: L M
authors.initials: LM
authors.lastname: Paula
authors.forename: N S
authors.initials: NS
authors.lastname: Melo
authors.forename: E N
authors.initials: EN
authors.lastname: Silva Guerra
authors.forename: D H
authors.initials: DH
authors.lastname: Mestrinho
authors.forename: A C
authors.initials: AC
authors.lastname: Acevedo
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000000981:diagnostic imaging / Q000473:pathology*; D003241:Consanguinity; D003784:Dental Pulp Calcification / Q000000981:diagnostic imaging / Q000473:pathology*; D019229:Dentition, Permanent; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009397:Nephrocalcinosis / Q000000981:diagnostic imaging / Q000473:pathology*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014070:Tooth / Q000000981:diagnostic imaging / Q000473:pathology*; D014078:Tooth Eruption / Q000235:genetics; D014094:Tooth, Deciduous