Hypocalcified autosomal recessive amelogenesis imperfecta—A case report


Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring in primary dentition in a 7-year-old girl with a family history of consanguineous marriage. Clinical and radiological examination revealed discoloration and hypoplasia of enamel with easy chipping affecting both maxillary and mandibular dentition.

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Dawasaz, A. , Zakirulla, M. and Allahbaksh, M. (2012) Hypocalcified autosomal recessive amelogenesis imperfecta—A case report. Open Journal of Stomatology, 2, 251-254. doi: 10.4236/ojst.2012.24044.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Witkop Jr., C.J. (1998) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification. Journal of Oral Pathology & Medicine, 17, 547-553. doi:10.1111/j.1600-0714.1988.tb01332.x
[2] Crawford, P.J.M., Aldred, M. and Bloch-Zupan, A. (2007) Amelogenesis imperfect. Orphanet Journal of Rare Diseases, 2, 1-11. doi:10.1186/1750-1172-2-1
[3] Aldred, M.J., Savarirayan, R. and Crawford, P.J. (2003) Amelogenesis imperfecta: A classification and catalogue for the 21st century. Oral Diseases, 9, 19-23. doi:10.1034/j.1601-0825.2003.00843.x
[4] Neville, B.W., Damm, D.D., Allen, C.M. and Bouquot, J.E. (2005) Abnormalities of teeth. In: Oral and Maxillofacial Pathology, 2nd Edition, Saunders, Philadelphia, 2005, 89.
[5] Rao, S. and Witkop Jr., C.J. (1971) Inherited defects in tooth structure. Birth Defects Original Article Series, 7, 153-184.
[6] Rajendran, R. (2007) Chapter 1. Developmental disturbances of oral and paraoral structures. In: Rajendran, R. and Sivapathasundhram, B., Eds., Shafer’s Textbook of Oral Pathology, 5th Edition, Elsevier, Amsterdam, 2007, 67.
[7] Weinmann, J.P., Svobcda, J.F. and Woods, R.W. (1945) Hereditary disturbances of enamel formation and calcification. Journal of American Dental Association, 32, 397-418.
[8] Coffield, K.D., Phillips, C., Brady, M., Roberts, M.W., Strauss, R.P. and Wright, J.T. (2005) The psychological impact of developmental dental defects in people with hereditary amelogenesis imperfecta. Journal of the American Dental Association, 136, 620-630.
[9] Backman, B. and Holmgren, G. (1988) Amelogenesis imperfecta: A genetic study. Human Heredity, 38, 189-206. doi:10.1159/000153785
[10] Aldred, M.J. and Crawford, P.J. (1995) Amelogenesis imperfecta—Towards a new classification. Oral Diseases, 1, 2-5. doi:10.1111/j.1601-0825.1995.tb00148.x
[11] Bsoul, S.A., Flint, D.J., Terezhalmy, G.T. and Moore, W.S. (2004) Amelogenesis imperfecta. Quintessence International, 35, 338-339.
[12] Akin, H., Tasveren, S. and Yeler, D.Y. (2007) Interdisciplinary approach to treating a patient with amelogenesis imperfecta: A clinical report. Journal of Esthetic and Restorative Dentistry, 19, 131-135. doi:10.1111/j.1708-8240.2007.00083.x
[13] Michaelides, M., Bloch-Zupan, A., Holder, G.E., Hunt, D.M. and Moore, A.T. (2004) An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. Journal of Medical Genetics, 41, 468-473. doi:10.1136/jmg.2003.015792
[14] Crooks, M.C. (1990) Prevalence of developmental defects of enamel in children and young adults in the Cook Islands. New Zealand Dental Journal, 86, 39-41.
[15] Seow, W.K. (1993) Clinical diagnosis and management strategies of amelogenesis imperfecta variants. Pediatric Dentistry, 15, 384-393.
[16] Neto, N.L., Paschoal, M.A.B., Kobayashi, T.Y., Rios, D. and Silva, S.M.B. (2010) Early oral rehabilitation of a child with amelogenesis imperfect. Journal of the Health Sciences Institute, 28, 246-248.
[17] Yigit Ozer, S.G. and Bahsi, E. (2010) Treatment of an amelogenesis imperfecta with restorations prepared using a modified clear matrix technique. Journal of Investigative and Clinical Dentistry, 1, 59-63. doi:10.1111/j.2041-1626.2010.00007.x
[18] Bouvier, D., Duprez, J.P. and Bois, D. (1996) Rehabilita- tion of young patients with amelogenesis imperfecta: A report of two cases. ASDC Journal of Dentistry Child, 63, 443-447.
[19] Venezie, R.D., Vadiakas, G., Christensen, J.R. and Wright, J.T. (1994) Enamel pretreatment with sodium hypochlorite to enhance bonding in hypocalcified amelogenesis imperfecta: Case report and SEM analysis. Pediatric Dentistry, 16, 433-436.
[20] Sapir, S. and Shapira, J. (2001) Dentinogenesis imperfecta: An early treatment strategy. Pediatric Dentistry, 23, 232-237.
[21] Tay, F.R. and Pashley, D.H. (2004) Resin bonding to cervical sclerotic dentin: A review. Journal of Dentistry, 32, 173-196. doi:10.1016/j.jdent.2003.10.009
[22] Lopes, G.C., Vieira, L.C., Monteiro Jr., S., Caldeira de Andrada, M.A. and Baratieri, C.M. (2003) Dentin bonding: Effect of degree of mineralization and acid etching time. Operative Dentistry, 28, 429-439.
[23] Andrews, P., Levine, N., Milnes, A., Pulver, F., Sigal, M. and Titley, K. (1992) Advances in the treatment of acquired and developmental defects of hard dental tissues. Current Opinion in Dentistry, 2, 66-71.

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