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Connect Tissue Res. 1998;39(1-3):151-6; discussion 187-94.

The aetiology of developmental defects of enamel: a prevalence and family study in East London, U.K.

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School of Clinical Dentistry, University of Sheffield, UK.


The aim of this study was to investigate genetic and environmental factors associated with hypoplastic defects of enamel in a detailed family study combined with an overall prevalence study. 68 percent of 1,518 children with a "complete" permanent dentition had enamel defects, 14.6 percent having hypoplasia. The Family Study consisted of 101 Index Cases from the Prevalence Study having 2 or more teeth with hypoplasia and their first degree relatives: they were compared with 101 matched controls and their relatives. The clinical examinations were supplemented with structured interviews to obtain social, medical and dental histories. Three Index Cases had amelogenesis imperfecta and 18 had "chronological hypoplasia". Bilateral hypoplasia of lower central incisors had a multifactorial aetiology (heritability 70 percent +/- 38 percent), while hypoplasia of pre-molars was associated with familial occurrence of defects. There was evidence suggesting a predisposition in some families to developmental defects of enamel.

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