Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.
Amelogenesis Imperfecta* ; Amelogenesis* ; Cone-Beam Computed Tomography ; Dental Enamel Hypoplasia ; Dental Enamel* ; Dentists ; Fibromatosis, Gingival ; Humans ; Kidney Diseases ; Male ; Metabolic Diseases ; Nephrocalcinosis ; Nephrolithiasis* ; Phenotype ; Radiography ; Tooth ; Young Adult