Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis
![]() |
Choi, Sooji
(Department of Pediatric Dentistry, Ajou University Dental Hospital)
Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) Ji, Suk (Department of Periodontology, Ajou University Dental Hospital) Song, Seungil (Department of Oral and Maxillofacial Surgery, Ajou University Dental Hospital) Shin, Jeongwon (Department of Orthodontics, Ajou University Dental Hospital) Kim, Seunghye (Department of Pediatric Dentistry, Ajou University Dental Hospital) |
1 | Aldred MJ, Crawford PJ : Variable expression in Amelogenesis imperfecta with taurodontism. J Oral Pathol, 17:327-333, 1988. DOI |
2 | Collins MA, Mauriello SM, Tyndall DA, Wright JT : Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 88:358-364, 1999. DOI |
3 | Ooya K, Nalbandian J, Noikura T : Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations. Oral Surg Oral Med Oral Pathol, 65:449-458, 1988. DOI |
4 | Peters E, Cohen M, Altini M : Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. Oral Surg Oral Med Oral Pathol, 74:87-92, 1992. DOI |
5 | Parry DA, Mighell AJ, Inglehearn CF, et al. : Mutations in CNNM4 cause Jalili syndrome, consisting of autosomalrecessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet, 84:266-273, 2009. DOI |
6 | Ababneh FK, AlSwaid A, AlBalwi MA, et al. : Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A, 161:3155-3160, 2013. DOI |
7 | Wright JT, Johnson LB, Fine JD : Development defects of enamel in humans with hereditary epidermolysis bullosa. Arch Oral Biol, 38:945-955, 1993. DOI |
8 | Wright JT, Hong SP, Luder HU, et al. : DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dentoosseous syndrome. Am J Med Genet A, 146:343-349, 2008. DOI |
9 | O'Sullivan J, Bitu CC, Dixon MJ, et al. : Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet, 88:616-620, 2011. DOI |
10 | MacGibbon D : Generalized enamel hypoplasia and renal dysfunction. Aust Dent J, 17:61-63, 1972. DOI |
11 | Seow WK : Clinical diagnosis and management strategies of amelogenesis imperfectavariants. Pediatr Dent, 15:384-393, 1993. |
12 | Kala Vani SV, Varsha M, Sankar YU : Enamel renal syndrome: a rare case report. J Indian Soc Pedod Prev Dent, 30:169-172, 2012. DOI |
13 | Witkop CJ : Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol, 17:547-553, 1988. DOI |
14 | Normand Tranchade I, Bonarek H, Nancy J, et al. : Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. J Clin Pediatr Dent, 27:171-175, 2003. |
15 | Feller L, Jadwat Y, Raubenheimer EJ, et al. : Enamel dysplasia with odontogenic fibroma-like hamartomas: review of the literature and report of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 101:620-624, 2006. DOI |
16 | Kantaputra PN, Bongkochwilawan C, Chaisrisookumporn YN, et al. : Periodontal disease and FAM20A mutations. J Hum Genet, 62:679-686, 2017. DOI |
17 | Paula LM, Melo NS, Acevedo AC, et al. : Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Arch Oral Biol, 50:237-242, 2005. DOI |
18 | Cho YA, Yoon HJ, Hong SD, et al. : Multiple calcifying hyperplastic dental follicles: comparison with hyperplastic dental follicles. J Oral Pathol Med, 40:243-249, 2011. DOI |
19 | Martelli-Junior H, Bonan PR, Coletta RD, et al. : Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. J Periodontol, 79:1287-1296, 2008. DOI |
20 | Yonemochi H, Noda T, Saku T : Pericoronal hamartomatous lesions in the opercula of teeth delayed in eruption: an immunohistochemical study of the extracellular matrix. J Oral Pathol Med, 27:441-452, 1998. DOI |
21 | Jaureguiberry G, Dure-Molla M, Kleta R, et al. : Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol, 122:1-6, 2012. DOI |
22 | O'Connell S, Davies J, Smallridge J, Vaidyanathan M : Amelogenesis imperfecta associated with dental follicular-like hamartomas and generalised gingival enlargement. Eur Arch Paediatr Dent, 15:361-368, 2014. DOI |
23 | Dure-Molla M, Quentric M, Bloch-Zupan A, et al. : Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. Orphanet J Rare Dis, 9:84, 2014. DOI |
24 | Wang SK, Aref P, Hu JC, et al. : FAM20A mutations can cause enamel-renal syndrome (ERS). PLoS Genet, 9:e1003302, 2013. DOI |
25 | Cho SH, Seymen F, Kim JW, et al. : Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat, 33:91-94, 2012. DOI |
26 | Proctor, Kumar RN, Porter S, et al. : Oral and dental aspects of chronic renal failure. J Dent Res, 84:199-208, 2005. DOI |
![]() |