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MeSH Review

Dental Enamel Hypoplasia

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High impact information on Dental Enamel Hypoplasia

  • In general, mutations in the human enamelin gene cause hypoplastic enamel, often with horizontal grooves, but the severity of the enamel defects is variable, even among individuals with the same mutation [1].
  • This article describes a new case of a rare syndrome including enamel agenesis of the primary and permanent dentition, delayed or absent eruption of the permanent dentition, coronal intra-alveolar resorption and gingival enlargement [2].
  • Phenotypically affected males in family 1 had yellowish-brown, poorly mineralized enamel; those in family 2 had thin, smooth, hypoplastic enamel [3].
  • In this investigation, an adult male presenting with a severe hypoplastic enamel phenotype was found to have a single base deletion at the codon for amino acid 110 of the X-chromosomal 175-amino acid amelogenin protein [4].
  • To illustrate this, the report presents a case of a 15 year old Nigerian girl with combined tetracycline staining and chronological enamel hypoplastic defects on her teeth [5].

Chemical compound and disease context of Dental Enamel Hypoplasia

  • This study was undertaken to compare the fluoride content ([F]) of sound and hypoplastic enamel of dogs' teeth for use as a diagnostic aid for fluorosis [6].

Gene context of Dental Enamel Hypoplasia


  1. ENAM mutations in autosomal-dominant amelogenesis imperfecta. Kim, J.W., Seymen, F., Lin, B.P., Kiziltan, B., Gencay, K., Simmer, J.P., Hu, J.C. J. Dent. Res. (2005) [Pubmed]
  2. Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. Normand de la Tranchade, I., Bonarek, H., Marteau, J.M., Boileau, M.J., Nancy, J. The Journal of clinical pediatric dentistry. (2003) [Pubmed]
  3. Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. Hart, P.S., Aldred, M.J., Crawford, P.J., Wright, N.J., Hart, T.C., Wright, J.T. Arch. Oral Biol. (2002) [Pubmed]
  4. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. Greene, S.R., Yuan, Z.A., Wright, J.T., Amjad, H., Abrams, W.R., Buchanan, J.A., Trachtenberg, D.I., Gibson, C.W. Arch. Oral Biol. (2002) [Pubmed]
  5. Enamel staining and hypoplasia due to multiple causes in a Nigerian adolescent: report of a case. Ogunyinka, A. African journal of medicine and medical sciences. (1998) [Pubmed]
  6. The fluoride content of enamel as a diagnostic aid in fluorosis. Janse van Rensburg, S.D., van der Merwe, C.A., Ligthelm, A.J. J. Dent. Assoc. S. Afr. (1992) [Pubmed]
  7. A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. Pokala, P., Acs, G. Pediatric dentistry. (1994) [Pubmed]
  8. Hypoplastic enamel associated with congenital bilateral vesicoureteral reflux. Lazarus, L., Alexander, S.A., Swerdloff, M. The Journal of pedodontics. (1980) [Pubmed]
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