Resumo

QUELCA CHOQUE, Heber Gonzalo  e  BUSTAMANTE CABRERA, Gladys. Osteogenesis Imperfecta. Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2394-2399. ISSN 2304-3768.

ABSTRACT Osteogenesis imperfecta is a hereditary disease characterized by defective bone formation as a result of alterations in the synthesis of collagen, a protein that is absent or very small quantities, mainly in bone tissue so a multiple continuity occurs fractures in different body parts. Osteogénesis imperfecta is a group of diseases, hereditary divided into six types of the disease, each with a subcalsification that make this a complex and widespread disease, where the patient receives the gene dysfunction presents generate this protein responsible give strength and firmness to the hard tissues of the body. The extrauterine life for the patient changes significantly, including fpr both parents, who play a major role in the development and adaptation of the patient, facing the society that tends to misinterpret with allegations of child abuse to those found in their environment immediately. Current treatments are aimed at preventing and somehow control the symptoms of the disease to prevent this disease develops directly attacking the cause.

Palavras-chave : Osteogenesis Imperfecta; Collagen; Densitometry; Brittle bone.