Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature

Amelogenesis imperfecta (AI) is a heterogeneous group of hereditary disorders that affect dental enamel [1] . It can affect some or all of the teeth in the deciduous and/or permanent dentition. AI has frequently been re-ported as an isolated finding with autosomal dominant, autosomal recessive or X-linked modes of inheritance [2] . Occasionally, AI occurs with other features as part of a syndrome in, for example, amelo-onycho-hypohidrotic syndrome, Morquio syndrome, Kohlschutter syndrome, tricho-dento-osseous syndrome, AI with taurodontism syndrome, oculo-dento-osseous dysplasia, epidermolysis bullosa hereditaria, AI and nephrocalcinosis syndrome.N ephrocalcinosis is deposition of calcium in renal tis-sue, and may be predominantly cortical or, more com-monly, medullary found in conditions such as primary hyperparathyroidism, distal renal tubular acidosis, med-ullary sponge kidney, hypervitaminosis D, oxalosis, and some forms of Bartter’s syndrome [3]. T he rare syndrome of AI with nephrocalcinosis, also called the enamel-renal syndrome (OMIM 204690), was first reported by Mac-Gibbon in 1972 [4]; s ince this report, only another 9 cas-