Osteogenesis imperfecta brittle

Congenital diseases (diseases present at birth) of connective tissne (a group of tissues of the body which includes bone) can cause abnormalities of bone structure, and therefore osteoporosis. Such diseases include osteogenesis imperfecta (brittle bone disease) and Marfan syndrome. 

Osteogenesis imperfecta. Brittle bone syndrome, is an inherited disorder which occurs around once in every 20 (M)() births. 

Brittle bone disease, or osteogenesis imperfecta (01), is caused by mutations or absence of one of the genes encoding type I collagen chains, which interferes with assembly and function of the triple helix. 

In osteogenesis imperfecta, the child has brittle bones , which fracture easily. There may also be blue sclerae, hearing defects, and dental abnormalities. There are a variety of forms of this condition that involve defects in the structure of collagen. 

Mutations that interfere with collagen fiber formation mostly cause lethal or nonlethal osteogenesis imperfecta, also known as brittle bone disease. The bones break easily and apparently spontaneously. The disorder occurs in about one in 50,000 live births in the US. Osteogenesis imperfecta is clinically divided by whether the teeth are also affected. They may appear opalescent blue-gray or yellow-brown because of abnormal dentin calcification. 

J. C. Marini Osteogenesis imperfecta—managing brittle bones. New England Journal of Medicine 339, 986 (1998). 

Ablin DS, Sane SM (1997) Non-accidental injury confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol 27 111-113... 

Caffey J (1957) Some traumatic lesions in growing bones other than fractures and dislocations clinical and radiological features. Br J Radiol 30 225-238 Carty H (1988) Brittle or battered. Arch Dis Child 63 350-352 Carty H, Pierce A (2002) Non-accidental injury a retrospective analysis of a large cohort. Eur Radiol 12 2919-2925 Carty H, Shaw D (1988) Osteogenesis imperfecta type IV A. 

Yet another connective tissue disorder which may result from a collagen abnormality is osteogenesis imperfecta where there is disruption of the normal collagen-apatite relationship. Among its most frequent manifestations are brittle bones, deafness, a thin skin, loose-jointedness and hernia. The teeth often have an abnormal coloration and, although the enamel is essentially normal, the dentine is defective and soft, and the root canals and pulp chambers tend to become obliterated. 

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