Osteogenesis imperfecta.

نویسندگان

  • P J Caputo
  • J H Walter
چکیده

Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may single out a three-month-old infant which would be a case of congenital osteogenesis imperfecta. The remaining 4 would correspond to cases of late osteogenesis imperfecta. Generalized osteoporosis was present in 3 patients and all of them showed blue sclera the same as fractures of femur. Fractures of radius, tibia and fibula were seen in 2 cases. The humerus was fractured in one patient and the ulna in another one. Three patients were under one year old, another one was on his second year and the last one was a school ager. An audiologic examination was normal in the nine-year-old patient. In the other 4 cases, it was not possible to carry out such test.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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 کامل

Next-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 کامل

Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.

Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...

متن کامل

Osteogenesis imperfecta type V, spot diagnosis

BACKGROUND The first case of Osteogenesis Imperfecta Type V in the Polish literature is reported. CASE REPORT Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. CONCLUSIONS Generalised osteoporosis with multiple fractures, periosteal thickening and bilateral dislocation of the radial heads are c...

متن کامل

اداره 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 کامل

Benefits of Pamidronate Treatment in Osteogenesis Imperfecta

Received March 9, 2004 Abstract Osteogenesis imperfecta is a hereditary disorder of connective tissues characterised by low bone mass and bone fragility. Previous studies demonstrated that cyclical pamidronate therapy is effective in increasing bone density and improving clinical outcomes in children with osteogenesis imperfecta. We report our experience in treating two children with cyclical i...

متن کامل

ذخیره 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 نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of the Indian Society of Pedodontics and Preventive Dentistry

دوره 24 Suppl 1  شماره 

صفحات  -

تاریخ انتشار 1948