Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?

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Abstract
A unique connective tissue disorder characterized by the triad of dentinogenesis imperfecta, blue sclerae and multiple wormian bones was identified in 20 members of 3 generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some vertebral flattening in late adulthood, this abnormality produced no untoward sequelae. Bone fragility was present in 1 young male, while a mother and her daughter had deafness of uncertain relationship with the primary disorder. Dental discoloration and a liability to caries were the only important complications. The condition is best regarded as yet another variety of osteogenesis imperfecta. It is inherited as an autosomal dominant trait with relatively consistent phenotypic expression.

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