Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings.

This article describes the enamel ultrastructure and clinical features in two siblings with the little known syndrome of Amelogenesis imperfecta and nephrocalcinosis. Nephrocalcinosis was diagnosed by x-ray examination of the abdomen, intravenous pyelography, ultrasonography, and computed tomography scan. Amelogenesis imperfecta was diagnosed from clinical and histologic examinations. The affected enamel was hypoplastic (approximately 0.2 mm thick), positively birefringent, generally aprismatic, porous, and consisted of loosely packed, randomly orientated, thin (approximately 10 nm wide), ribbonlike crystals. The enamel surface was rough, extensively cracked, and covered with ovoid or globular protrusions. Observations showed that in this case hypoplasia, hypocalcification, or hypomaturation defects were present in the same tooth, indicating that both secretory and maturation phases may have been affected. The study suggested the possibility of an abnormality in interstitial matrix, which could lead to dystrophic calcification in the kidney and abnormal tooth enamel formation. It also suggested the possibility of involvement of two separate but closely linked genes.