A 77-year-old woman with osteogenesis imperfecta was admitted with symptomatic choledocholithiasis. Endoscopic retrograde cholangiopancreatography (ERCP) was carried out and mild resistance was encountered in the distal esophagus with “red out” during intubation. The duodenoscope was withdrawn and gastroscopy revealed a tear in the distal esophagus (●" Fig.1). As a perforation was suspected, a ...

The mortality rate in cardiac surgery patients with heritable generalized connective tissue disorders, such as Marfan s syndrome and osteogenesis imperfecta, is high due to tissue friability. We describe a successful open heart surgery for repair of aortic regurgitation in a woman with osteogenesis imperfecta (OI). Although tissue friability caused no problems during surgery in this case, it sh...

A 20-yr-old primigravida at 38 weeks gestation with premature rupture of membranes and evidence of fetal distress required urgent Caesarean section. The diagnosis of osteogenesis imperfecta had been made 4 days earlier. The patient refused a regional anaesthetic. Difficulties in the administration of general anaesthesia to patients with osteogenesis imperfecta were recognized and managed accord...

A 21 year old man with severe osteogenesis imperfecta developed classic right maxillary trigeminal neuralgia. Brain imaging showed pronounced basilar invagination, which was probably responsible for the pain through distortion of the trigeminal sensory root secondary to displacement of the brainstem. Osteogenesis imperfecta may be added to Paget's disease as a potential cause of symptomatic tri...

Osteogenesis imperfecta is a clinically and genetically heterogeneous group of inherited connective tissue disorders in which bone fragility is the predominant feature. Cultured dermal fibroblasts from one patient with the lethal perinatal form of osteogenesis imperfecta secrete type I procollagen at a rate half that of normal cells. Short-term labeling experiments and treatment with alpha,alph...

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Tha...

UNLABELLED A 51-year-old male with known osteogenesis imperfecta (OI) (type 1) presented with symptoms and signs of infective endocarditis. Transthoracic echocardiography showed chordal rupture and free mitral regurgitation, resulting in an emergency mitral valve repair. The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bo...

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...

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...

BACKGROUND Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. MATERIAL/METHODS Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the chan...