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Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family.
Arch Oral Biol. 2005 Feb; 50(2):237-42.AO

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+Show Affiliations

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.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15721155

Citation

Paula, L M., et al. "Case Report of a Rare Syndrome Associating Amelogenesis Imperfecta and Nephrocalcinosis in a Consanguineous Family." Archives of Oral Biology, vol. 50, no. 2, 2005, pp. 237-42.
Paula LM, Melo NS, Silva Guerra EN, et al. Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Arch Oral Biol. 2005;50(2):237-42.
Paula, L. M., Melo, N. S., Silva Guerra, E. N., Mestrinho, D. H., & Acevedo, A. C. (2005). Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Archives of Oral Biology, 50(2), 237-42.
Paula LM, et al. Case Report of a Rare Syndrome Associating Amelogenesis Imperfecta and Nephrocalcinosis in a Consanguineous Family. Arch Oral Biol. 2005;50(2):237-42. PubMed PMID: 15721155.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. AU - Paula,L M, AU - Melo,N S, AU - Silva Guerra,E N, AU - Mestrinho,D H, AU - Acevedo,A C, PY - 2004/09/12/received PY - 2004/11/19/accepted PY - 2005/2/22/pubmed PY - 2005/6/14/medline PY - 2005/2/22/entrez SP - 237 EP - 42 JF - Archives of oral biology JO - Arch Oral Biol VL - 50 IS - 2 N2 - 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. SN - 0003-9969 UR - https://www.unboundmedicine.com/medline/citation/15721155/Case_report_of_a_rare_syndrome_associating_amelogenesis_imperfecta_and_nephrocalcinosis_in_a_consanguineous_family_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003-9969(04)00292-4 DB - PRIME DP - Unbound Medicine ER -