Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome

J Clin Pediatr Dent. 2003 Winter;27(2):171-5. doi: 10.17796/jcpd.27.2.3188100w6t4516j8.


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. Renal symptoms include medullary nephrocalcinosis without any apparent cause, and evolution to a renal failure. The early diagnosis provided by the oral symptoms leads to a better renal prognosis. As a consequence, pediatric dentists should be aware of this pathology.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Amelogenesis Imperfecta / complications*
  • Amelogenesis Imperfecta / pathology
  • Amelogenesis Imperfecta / urine
  • Dental Occlusion, Traumatic / etiology
  • Female
  • Humans
  • Nephrocalcinosis / complications*
  • Nephrocalcinosis / urine
  • Syndrome
  • Tooth, Unerupted / etiology*
  • Vertical Dimension