normal pulp cavities exclude dentinogenesis imperfecta". In the dentine abnormalities that may be associated with osteogenesis imperfecta, the pulp chambers and root canals are either progessively obliterated by the continuous deposition of highly disorganised dentine, or the pulp chambers are larger than normal by a failure of deposition. It is not possible to ascertain whether or not the pulp...

AIM The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. BACKGROUND Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with va...

Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations in COL1A1 and COL1A2 genes. We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a type III osteogenesis imperfect...

Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...

Hereditary defects of dentin include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD). They are characterized by abnormal dentin for­ mation. Within the last 32 years, since the first classification system was pro­ posed, significant advances have been made regarding their genetic aetio­ logies. In the classification system suggested by Shields et al (1973), den­ tinogenesis imperfecta...

Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the forearm, femora, and to lesser extent the tibiae. Neither wormian bones of the skull nor dentinogenesis imperfecta was present. Genetic tests r...