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J Med Genet. 1996 February; 33(2): 137–142.
PMCID: PMC1051840

On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.

Abstract

Familial severe hypodontia of the permanent dentition is a rare condition. The genetics of this entity remains unclear and several modes of inheritance have been suggested. We report here an increase in the number of congenitally missing teeth after the mating of affected subjects from two unrelated Norwegian families. This condition may be the result of allelic mutations at a single gene locus. Alternatively, incompletely penetrant non-allelic genes may show a synergistic effect as expected for a multifactorial trait with interacting gene products. This and similar kindreds may allow identification of genes involved in growth and differentiation of dental tissues by linkage and haplotype association analysis. Brittle nails, delayed growth of the hair, and delayed teething in the probands support the grouping of these conditions among the ectodermal dysplasias.

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