Clin Osteol 2009; 14(2): 49-57

Osteogenesis imperfecta in children - what attending physicians should knowReview articles

M. Bayer

Osteogenesis imperfecta is a group of genetically determined disorders, commonly known as brittle bone disease. Osteogenesis im­ perfecta occurs once in every 10,000 to 30,000 births. Most cases are caused by mutation in the genes encoding type I collagen. Less than one tenth of cases are caused by mutations in other genes. Clinical manifestations of the disease are highly variable, from a mild form to a lethal course during the perinatal period. Knowledge about osteogenesis imperfecta and its treatment significantly increased during recent years. Several new types of the disease have been identified since the first classification was introduced by David Sillence in 1979. Bisphosphonates are known to successfully improve bone mineral density and decrease the number of fractures in severely af­ fected children. However, this therapy has not been approved by regulatory authorities due to lack of evidence-based studies. Experts should cooperate with the whole family since the birth of a child with osteogenesis imperfecta to optimize his or her quality of life be­ cause mild and moderate forms of osteogenesis imperfecta neither affect life expectancy and nor cause any mental deficit. This review should serve as a source of information for medical professionals in pa

Keywords: osteogenesis imperfecta, children, manifestations, treatment

Published: December 11, 2009  Show citation