[Osteogenesis imperfecta: Treatment and results of a case series].
نویسندگان
چکیده
OBJECTIVES To describe our experience in the management of patients with osteogenesis imperfect (OI). MATERIAL AND METHODS We conducted a retrospective study of a series of cases affected with OI treated in the Clínica Univesidad de Navarra from 1980 to 2007, with a mean follow up of 17.3 years (7-27 years). We collected descriptive data of the sample, the fractures and the deformities, and the treatments given. The complications presented and the functional outcomes at the end of follow-up were also reviewed. RESULTS The sample included ten patients. Approximately two-thirds (65%) of fractures were sustained in the lower limbs. One patient received medical treatment only. Three patients had combined medical and surgical treatment. Some type of surgical treatment was performed on 6 patients. The most common surgery was the Sofield-Millar performed on 37 occasions, with a third of them requiring revision surgery due to migration of the nails. There were 17 episodes of re-fracture. Complications such as non-union, iatrogenic fractures, and infections, were also observed. The functional outcome, according to the Hoffer-Bullock scale, at the end of follow-up was grade I/II in 7 patients. CONCLUSIONS Despite the need for multiple interventions and complications presented during follow up, the appropriate treatment of patients with OI can provide acceptable functional outcomes.
منابع مشابه
Association of Behçet’s Disease with Osteogenesis Imperfecta in A Ten-Year-Old Girl
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. In this article, we present a patient suffering from OI, who had concomitant active Behçet’s Disease(BD)with repeated oro-genital ulcers, skin postular eruptions and severe recurrent bilateral uveitis. This patient, is, to our knowledge the first reported case in ...
متن کاملNext-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
متن کاملاداره بیهوشی در بیمار مبتلا به استئوژنز ایمپرفکتای کاندید عمل جراحی پلاک گذاری ساق
ABSTRACT: Aims and background: Osteogenesis imperfecta is an authosomal dominant disease that almost always involve the connective tissues .The major problem in these patients is inability to synthesize collagen type -1, that leads to multiple long bone fractures. This case report is going to describe management of anesthesia in a patient with Osteogenesis imperfecta, who was scheduled fo...
متن کاملAmelogenesis Imperfecta in Deciduous, Mixed and Permanent Dentition- Diagnosis and Treatment, Case Series
Amelogenesis imperfecta represents a broad spectrum of genetic diseases affecting enamel formation in both deciduous and permanent dentition. This paper describes different phenotypes of amelogenesis imperfecta in deciduous, mixed and permanent dentition and treatment options, including a novel treatment possibility for extracted anterior deciduous teeth. The results showed that diagnosis and t...
متن کاملReport of Four Cases of Osteogenesis
Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported. Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness. Recessive abnormal trait probably due to new mutation was the c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Revista espanola de cirugia ortopedica y traumatologia
دوره 58 2 شماره
صفحات -
تاریخ انتشار 2014