We have analysed six South African families with osteogenesis imperfecta type I using three DNA polymorphisms associated with the pro alpha 2(I) collagen gene. In four of these families linkage of the pro alpha 2(I) gene and the osteogenesis imperfecta phenotype was suggested, whereas in the remaining two families there was a lack of linkage. No distinct correlation could be made between the ph...

Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients experience recurring and long-term fractures, which often require orthopaedic management. With the advancement of nonsurgical and surgical managem...

OBJECTIVE To report a case of successful bone-anchored hearing aid implantation in an adult patient with type III osteogenesis imperfecta, which is commonly regarded as a contraindication to this procedure. CASE REPORT A 45-year-old man with type III osteogenesis imperfecta presented with mixed hearing loss. There was a mild sensorineural component in both ears, with an air-bone gap between 4...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

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 beh ç et’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 i...

Osteogenesis imperfecta (O.I.) is a genetic disorder with increased bone fragility and low bone mass. We report the history of a 17-year-old male patient with O.I. who presented a fracture of his left femoral shaft. He had osteogenesis imperfecta type I A according to Silence. He had presented two years previously an ipsilateral cervical fracture of the femur which had healed. Intramedullary fi...

BACKGROUND Osteogenesis imperfecta is associated with susceptibility to connective tissue damage, including intracranial but usually extra-axial hemorrhage. Plasminogen activator inhibitor-1 deficiency is a rare fibrinolytic cause of systemic bleeding diathesis. OBJECTIVE To describe a case of a brainstem intraparenchymal hemorrhage associated with connective tissue and coagulation disorders....

Histomorphometric analysis was performed on transiliac undecalcified bone biopsies taken from eight adults and four children with osteogenesis imperfecta. Double tetracycline labelling done before the biopsy allowed measurement of the calcification rate in 11 patients. The adults, as well as the children, had thin iliac cortices and considerably decreased trabecular bone volume. In addition, th...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.