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...

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 ...

We describe two patients aged 16 and 25 years with osteogenesis imperfecta who sustained displaced fractures of the acetabulum following minor trauma. The femoral heads were deformed by impact against the acetabular margin and both cases underwent surgical reconstruction. The quality of the bone and soft tissues made the operations challenging. There were potential complications specific to ost...

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...

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...

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...

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....