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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Amelogenesis imperfecta

Figure 1

Phenotypic descriptions of amelogenesis imperfecta. Amelogenesis imperfecta may be subdivided at the clinical level into various forms depending on the type of defect and stages of enamel formation disturbed: hypoplastic (a, b, c, d), dysmineralised (e, f), hypomature (g, h). Note the pitted and ridged appearance of the enamel in a, the association of pitted enamel and open bite in b. c and d are slightly different phenotypic manifestations in a sister (showing a horizontal banding pattern) and brother. In the hypomineralised form (e and f) the enamel is rough, soft and discoloured. Amelogenesis imperfecta may be part of a syndrome as in f), a case of amelogenesis imperfecta and cone rod dystrophy. Various enamel defects (both hypoplastic and hypomineralised) may coexist in the same patient or even the same tooth (f). The hypomaturation forms (g, h) display an enamel of normal thickness and hardness but with a white-ish surface. They may be mistaken for fluorosis. (from A. Bloch-Zupan).

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