Osteogenesis imperfecta (OI) is a rare hereditary condition caused by changes in collagen metabolism. It is classified into four types according to clinical, genetic, and radiological criteria. Clinically, bone fragility, short stature, blue sclerae, and locomotion difficulties may be observed in this disease. OI is often associated to severe dental problems, such as dentinogenesis imperfecta (...

Osteogenesis imperfecta (OI) is a genetic disorder causing defects in the development of collagen type I. Clinical signs of affected dachshunds include multiple fractures of bones, joint hyperlaxity and dentinogenesis imperfecta. Recently, a recessive mutation in the SERPINH1 gene was detected in dachshunds and enabled the development of a DNA test to identify dachshunds carrying the mutation. ...

The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and development, belong to signalling pathways and have morphogenesis regulatory fu...

Osteogenesis imperfecta (OI), also known as brittle bone disease, characterized by multiplicative osteopsathyrosis, blue sclera, dentinogenesis imperfecta and mild audition, is a rare inherited connective tissue disease. There are seven types of OI, I to VII, among which type I-IV are relatively common and associated with type I collagen. Defects in type I collagen synthesis or structure are re...

Linda Shields PhD, FRCNA, Professor of Nursing, University of Limerick, Ireland This is one of a series of short papers on aspects of research by Alison Twycross and Linda Shields Just because a research study has been published in a journal does not mean that it is good research or that the results are applicable to your area of clinical practice. When reading a paper, it is necessary to consi...

Developmental defects of enamel (DDE) are frequently observed in pediatric dental patients. Proper diagnosis may improve the clinician's dental care. The purpose of this article is to present the clinical management of some common dental defects: (1) hypoplasia; (2) diffuse and demarcated opacities; (3) fluorosis; (4) amelogenesis imperfecto (Al); and (5) dentinogenesis imperfecto (DI). The com...