AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPENBITE MALOCCLUSION, AUTOSOMAL RECESSIVE
AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE
AI1C
In the course of an extensive survey, Chosack et al. (1979) found several families with autosomal recessive local hypoplastic amelogenesis imperfecta. Characteristics included horizontal pitting and grooving more pronounced in the middle third of the crowns of most ... In the course of an extensive survey, Chosack et al. (1979) found several families with autosomal recessive local hypoplastic amelogenesis imperfecta. Characteristics included horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth of both dentitions. In a study of 50 patients with amelogenesis imperfecta, Rowley et al. (1982) found that anterior openbite malocclusion occurred in 24%, and was always associated with a severe discrepancy in the vertical relationship of the jaws. Vertical dysgnathia also occurred in a further 20% of the patients who did not have anterior openbite malocclusion. Wright (1985) reported a family in which 2 sibs had autosomal recessive AI and severe anterior open bite. Hart et al. (2003) reported 3 Turkish probands with severe generalized amelogenesis imperfecta that was both hypoplastic and radiographically unmineralized. All 3 probands also had a class II anterior openbite malocclusion. Taurodontism was not present. All 6 parents, 3 sibs, and 3 relatives had localized, circumscribed discrete areas of enamel hypoplasia consistent with a clinical diagnosis of enamel pitting, which the authors did not consider to be a mild form of AI. Hart et al. (2003) noted that anterior openbite malocclusion is a frequent associated finding in AI.
In 3 patients with amelogenesis imperfecta and openbite malocclusion, Hart et al. (2003) identified a homozygous 2-bp insertion in the ENAM gene (606585.0003). Further genotyping indicated that all 3 probands shared a common haplotype, suggesting a common ancestor. ... In 3 patients with amelogenesis imperfecta and openbite malocclusion, Hart et al. (2003) identified a homozygous 2-bp insertion in the ENAM gene (606585.0003). Further genotyping indicated that all 3 probands shared a common haplotype, suggesting a common ancestor. All 6 parents and family members with localized hypoplastic enamel pitting were heterozygous for the mutation. Hart et al. (2003) noted the dose-dependent effect of the 2-bp insertion mutation.