title: Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.
abstract: Amelogenesis imperfecta (AI) was detected in nine of 70,359 school children surveyed, a prevalence approximating 1:8,000. Of these cases, eight were the hypoplastic type and one the snow-capped hypomaturation type. Family studies demonstrated that hypoplastic AI was an autosomal dominant trait in two children and an autosomal recessive in six. Of three additional families referred to our clinic, two had autosomal recessive hypoplastic AI and one the hypocalcified type, inherited as an autosomal dominant trait. In four families, a new type of local hypoplastic autosomal recessive AI was observed, characterized by horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth in both dentitions.
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002648:Child; D002877:Chromosomes, Human; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D010375:Pedigree