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 intraalveolar 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.

Normand de la Tranchade I. Syndrome d'Amélogenèse imparfaite et néphrocalcinose. A propos d'un cas. Thèse de Chirurgie Dentaire n° 16. Université de Bordeaux II. 14 juin 2000.
MacGibbon D. Generalized enamel hypoplasia and renal dysfunction.Aust Dent J 17: 61-63, 1972.
Generalized enamel hypoplasia and renal dysfunction
Aust Dent J
, vol. 
17
 (pg. 
61
-
63
)
Dellow EL, Harley KE, Unwin RJ, Wrong O,Winter GB, Parkins BJ. Amelogenesis imperfecta, nephrocalcinosis and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. Nephrol Dial Transplant 13: 3193-3196, 1998.
Amelogenesis imperfecta, nephrocalcinosis and hypocalciuria syndrome in two siblings from a large family with consanguineous parents
Nephrol Dial Transplant
, vol. 
13
 (pg. 
3193
-
3196
)
Lubinsky M, Angle C, Marsh PW,Witkop CJ. Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration and possible abnormality of calcium metabolism. Am J Med Genet 20: 233-243, 1985
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration and possible abnormality of calcium metabolism
Am J Med Genet
, vol. 
20
 (pg. 
233
-
243
)
Marks SC. The basic and applied biology of tooth eruption. Connect Tissue Res 32: 149-157, 1995.
The basic and applied biology of tooth eruption
Connect Tissue Res
, vol. 
32
 (pg. 
149
-
157
)
Wise GE. Cells and molecular bio of tooth eruption. In: The biological mechanisms of tooth eruption, resorption and replacement by implants. Davidovitch Z, editor, Birmingham, AL, EBSCO Media, 1998.
Cells and molecular bio of tooth eruption
Phakey P, Palamara J, Hall RK, Mc Credie DA. Ultrastructural study of tooth enamel with amelogenesis imperfecta in AInephrocalcinosis syndrome. Connect Tissue Res 32: 253-259, 1995.
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AInephrocalcinosis syndrome
Connect Tissue Res
, vol. 
32
 (pg. 
253
-
259
)
Hall RK, Phakey P, Palamara J, Mc Credi DA. Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. Oral Surg Oral Med Oral Pathol Oral Radiol End 79: 583-592, 1995.
Amelogenesis imperfecta and nephrocalcinosis syndrome
Case studies of clinical features and ultrastructure of tooth enamel in two siblings. Oral Surg Oral Med Oral Pathol Oral Radiol End
, vol. 
79
 (pg. 
583
-
592
)
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