Clinical management of hypoplasic amelogenesis imperfecta: a challenge for multidisciplinary equipment. A case report

  • Maria Gabriela Acosta-de Camargo Universidad de Carabobo
  • Alfredo Enrique Natera-Guarapo Universidad Central de Venezuela
  • John Mangles† Universidad Central de Venezuela
Keywords: Hypoplasic amelogenesis imperfecta, Direct resin, Veneers


Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and are passed down through families. Hypoplasic AI phenotype’s include the absence of enamel as a result of a defect in the secretory stage. This case report describes the diagnosis and treatment of a patient with hypoplastic AI. The clinical implications include sensitive teeth, function problems, and aesthetic complaining. The diagnosis was done through history, clinical examination and imaging. The intervention was performed by Direct Resin Veneers. This treatment showed to improve occlusion, esthetics, and self-image of the teenager. The satisfactory clinical result has made it possible to avoid more invasive and expensive treatments.

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Author Biographies

Maria Gabriela Acosta-de Camargo, Universidad de Carabobo

PhD in Dentistry. Universidad Central de Venezuela. Specialist in Pediatric Dentistry University Santa Maria. Professor in the Department of Pediatric Dentistry, Universidad de Carabobo. Valencia, Venezuela

Alfredo Enrique Natera-Guarapo, Universidad Central de Venezuela

Dentist. Magister in Statistics in Social data. Professor in Department of Operative Dentistry, Universidad Central de Venezuela. Caracas, Venezuela

John Mangles†, Universidad Central de Venezuela

Dentist. Universidad Central de Venezuela. Caracas. Venezuela†


Simancas-Escorcia V, Natera A, Acosta-de Camargo MG. Genes involved in amelogenesis imperfecta. Part I. Rev Fac Odontol Univ Antioq. 2018; 30(1): 105-20. DOI:

Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH et al A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. Arch Oral Biol. 2017; 76: 61-5. DOI:

Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007; 2: 17.

Leevailoj C, Lawanrattanakul S, Mahatumarat K. Amelogenesis Imperfecta: case study. Oper Dent. 2017; 42(5): 457-69. DOI:

Ramos AL, Pascotto RC, Filho LI, Hayacibara RM, Boselli G. Interdisciplinary treatment for a patient with open‐bite malocclusion and amelogenesis imperfecta. Am J Orthod Dentofacial Orthop. 2011; 139(4 Suppl): 145‐53. DOI:

Ayers KM, Drummond BK, Harding WJ, Salis SG, Liaton PN. Amelogenesis imperfecta: multidisciplinary management from eruption to adulthood. Review and case report. N Z Dent J. 2004; 100(4): 101‐4.

Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF et al. Amelogenesis imperfecta: genes, proteins, and pathways. Front Physiol. 2017; 8: 435. DOI:

Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1998; 17(9-10): 547-53. DOI:

Aldred MJ, Savarirayan R, Crawforf PJ. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Disease. 2003; 9(1): 19-23. DOI:

Lil L, Saiyin W, Zhang H, Wang S, Xu Q, Qin C et al. FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis. J Mol Histol. 2019; 50(6): 581-91. DOI:

Chauharry M, Dixit S, Singh A, Kunte S. Amelogenesis imperfecta: report of a case and review of literature. J Oral Maxillofac Pathol. 2009; 13(2): 70-7. DOI:

Sabandal MM, Schäfer E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology. 2016; 104(3): 245-56. DOI:

Poulsen S, Gjorup H, Haubek D, Haubek D, Haukali G, Hintze H et al. Amelogenesis imperfecta: a systemic literature review of associated dental and oro‐facial abnormalities and their impact on patients. Acta Odontol Scand. 2008; 66(4): 193‐99. DOI:

Arshad M, Shirani G, Mahgoli HA, Vaziri N. Rehabilitation of a patient with amelogenesis imperfecta and severe open bite: a multidisciplinary approach. Clin Case Rep. 2018; 7(2): 275-83. DOI:

Patel M, McDonnell ST, Iram S, Chan MF. Amelogenesis imperfecta: lifelong management. Restorative management of the adult patient. BR Dent J. 2013; 215(9): 449-57. DOI:

Coffield KD, Phillips C, Brady M, Roberts MW, Strauss RP, Wright JT. The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta. J Am Dent Assoc. 2005; 136(5): 620-30. DOI:

Tortolero MB. Self-esteem in children and teenagers with tooth disorders: literature review. ODOUS. 2015; 16(2): 58-70.

Witkop CJ, Sauk KK. Heritable defects of enamel. In: Stewart RE, Prescott CH (editors). Oral facial genetics. St Louis: C.V. Mosby; 1976.

Witkop CJ. Heriditary defects in enamel and dentin. Acta Genet Stat Med. 1957; 7(1): 236-9. DOI:

Sholapurkar AA, Joseph RM, Varghese JM, Neelagiri K, Acharya SR, Hegde V et al. Clinical diagnosis and oral rehabilitation of a patient with amelogenesis imperfecta: a case report. J Contemp Dent Pract. 2008; 9(4): 92-8.

Akin H, Tasveren S, Yeler DY. Interdisciplinary approach to treating a patient with amelogenesis imperfecta: a clinical report. J Esthet Restor Dent. 2007; 19(3): 131-5. DOI:

Marquezin MC, Zancopé BR, Pacheco LF, Gavião MB, Pascon FM. Aesthetic and functional rehabilitation of the primary dentition affected by amelogenesis imperfecta. Case Rep Dent. 2015; 2015: 790890. DOI:

Rodd HD, Abdul-Karim A, Yesudian G, O’Mahony J, Marshman Z. Seeking children's perspectives in the management of visible enamel defects. Int J Paediatr Dent. 2011; 21(2): 89-95. DOI:

Lourenço Neto N, Paschoal MA, Kobayashi T Y, Rios D, Silva SM. Oral rehabilitation of a child with amelogenesis imperfect. Journal of Health Science. 2010; 28(3): 246–8.

Craig AS, Baker SR, Rodd HD. How do children view other children who have visible enamel defects? Int J Paediatr Dent. 2015; 26(6): 399-408. DOI:

Soliman S, Meyer-Marcotty P, Hahn B, Halbleib K, Krastl G. Treatment of an adolescent patient with Dentinogenesis Imperfecta using indirect composite restorations: a case report and literature review. J Adh Dent. 2018;2 0(4): 345-54. DOI:

Strauch S, Hahnel S. Restorative treatment in patients with Amelogenesis imperfect: a review. J Prosthodont. 2018; 27(7): 618-23. DOI:

Sönmez IS, Aras S, Tunç ES, Küçükeşmen C. Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. Quintessence Int. 2009; 40(2): 113–8.

Visram S., McKaig S. Amelogenesis imperfecta, clinical presentation and management: a case report. Dental Update. 2006; 33(10): 612–6. DOI:

Bouvier D, Duprez JP, Bois D. Rehabilitation of young patients with amelogenesis imperfecta: a report of two cases. ASDC J Dent Child. 1996; 63(6): 443–47.

Kammoun R, Zmantar T, Labidi A, Abbes I, Mansour L, Ghoul-Mazgar S. Dental caries and hypoplastic amelogenesis imperfecta: clinical, structural, biochemical and molecular approaches. Microb Pathog. 2019; 135: 103615. DOI:

Pousette-Lundgren G, Dahllof G. Outcome of restorative treatment in young patients with amelogenesis imperfecta: a cross-sectional, retrospective study. J Dent. 2014; 42(11): 1382-9. DOI:

McDonald S, Arkutu N, Malik K, Gadhia K, McKaig S. Managing the paediatric patient with Amelogenesis Imperfecta. Br Dent J. 2012; 212(9): 425-8. DOI:

Acosta-de Camargo MF, Natera A. Level of knowledge concerning enamel defects and their treatment among pediatric dentists. Rev Odontopediatr Latinoam. 2017; 7(1): 25-35. DOI:

MacGibbon D. Generalized enamel hypoplasia and renal dysfunction. Aust Dent J. 1972, 17(1): 61-3. DOI:

De la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M et al. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. Orphanet J Rare Dis. 2014; 9.

Hunter L, Addy LD, Knox J, Drage N. Is amelogenesis imperfect an indication for renal examination? Int J Paediatr Dent. 2007; 17(1): 62-5. DOI:

Elizabeth J, Lakshmi Priya K, Umadevi R, Ranganathan K. Amelogenesis imperfecta with renal disease: a report of two cases. J Oral Pathol Med. 2007; 36(10): 625-8. DOI:

How to Cite
Acosta-de CamargoM. G., Natera-GuarapoA. E., & Mangles†J. (2021). Clinical management of hypoplasic amelogenesis imperfecta: a challenge for multidisciplinary equipment. A case report. Revista Facultad De Odontología Universidad De Antioquia, 33(1). Retrieved from