Dentinogenesis imperfecta type II: an affected family saga

Abstract

Dentinogenesis imperfecta (DI) type II orhereditary opalescent dentin is inherited in simple autosomal dominant mode with high penetrance and low mutation rate. It generally affects both the deciduous and permanent dentitions. DI type II corresponds to a localized form of mesodermal dysplasia, observed in histodifferentiation. Early diagnosis and treatment are therefore, fundamental, aiming at obtaining a favourable prognosis since late intervention makes treatment more complex. We present two cases of DI type II with the disease affecting three generations of a family in India, and briefly highlight the molecular basis of this disease. (J. Oral Sci. 49, [241][242][243][244] 2007)

Hereditary Opalescent Dentin: A Report of Two Cases

“…5,9 No characteristic features of osteogenesis imperfecta (i.e., multiple bone fracture, hyperextensible joint, progressive deafness) 8 and the Brandywine type of dentinogenesis imperfecta (i.e., multiple pulp exposure and shell teeth) 8 were Discussion W.C. Barrett (1882) first recognized opalescent dentin and Talbot (1893) described it as an enamel defect. 1 This condition reportedly occurs in 1 in every 8,000 births, 2,3 and is caused by a mutation in the dentin sialophospho protein gene (DSPP, 4q21.3). 2,4 The term dentinogenesis imperfecta was coined by Robert and Schour in 1939.…”

“…1 This condition reportedly occurs in 1 in every 8,000 births, 2,3 and is caused by a mutation in the dentin sialophospho protein gene (DSPP, 4q21.3). 2,4 The term dentinogenesis imperfecta was coined by Robert and Schour in 1939. 2,5 Witkop and Rao 6 in 1971 suggested that the term hereditary opalescent dentin should be used for isolated traits and the term dentinogenesis imperfecta (DI) be used for conditions associated with osteogenesis imperfecta.…”

Complete Overlay Denture for Pedodontic Patient with Severe Dentinogenesis Imperfecta

“…1 Robert and Schour coined the term “DI” in 1939. 2 Skillen, Finn, and Hodges coined the term “hereditary opalescent dentin.” 1 …”

Comparative Study of Dentinogenesis Imperfecta in Different Families of the Same Topographical Region

“…Dentinogenesis imperfecta (DI) was probably first recognized by Barret in 1882 5. The term was coined by Robert and Schor in 1939 4.…”