Etiology • Intrinsic enamel defect that affects all teeth of both dentitions • Results from defective amelogenin genes on X and Y chromosomes and also chromosome 4 (tuftelin gene) • At least 16 variants noted based upon inheritance pattern,
enamel qualities, and radiographic features • Frequency of 1:14,000 to 1:16,000 of population
Clinical Presentation • One of three basic alterations of enamel may be seen: hypopla-
enamel qualities, and radiographic features • Frequency of 1:14,000 to 1:16,000 of population
Clinical Presentation • One of three basic alterations of enamel may be seen: hypopla-
sia, hypomaturation, or hypocalcification • Enamel hardness varies depending upon type of defect: normal
hardness in hypoplastic form but deficient amounts of enamel; soft enamel in the hypocalcified variant but normal amounts of enamel
• Color ranges from normal (hypoplastic) to dark yellow-brown (hypocalcified)
• Radiographic changes range from normal density (hypoplastic) to less dense (hypocalcified)
• May be noted in association with taurodontism (coronally enlarged dental pulps)
• X-linked form demonstrates random vertical bands of normal and hypoplastic enamel
Diagnosis • Clinical and radiographic features • Family history (autosomal, X-linked forms)
Treatment • Full-crown restorations for esthetics • Genetic counseling