Osteogenesis imperfecta is a rare, genetically inherited syndrome involving connective tissue. It results in extremely fragile bones and disorders of other organs and body systems. Children with osteogenesis imperfecta are susceptible to bone fractures and often require surgery and anaesthesia. We describe a series of 14 general anaesthetics in three patients suffering from this disease. In one...

OBJECTIVES To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV. METHODS Four patients with basilar impression were ascertained in a population study of osteogenesis imperfecta. All four had detailed clinical and neuroradiological examination with both CT and MRI of the craniocervical junction and posterior fossa struct...

Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born t...

Until recently, medical management of osteogenesis imperfecta, a genetic disorder of reduced bone mass and frequent fractures, was elusive, and treatment was focused on maximizing mobility and function. The introduction of bisphosphonates for the treatment of osteogenesis imperfecta 14 years ago changed this paradigm. Cyclic intravenous pamidronate therapy leads to an increase in bone density a...

Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone a...

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...

OBJECTIVES To conduct a systematic review of epidemiological literature to determine the incidence of bisphosphonate related osteonecrosis of the jaw occurring either spontaneously or after dental surgery, in children and adolescents diagnosed with osteogenesis imperfecta. MATERIAL AND METHODS MEDLINE, HMIC and EMBASE were used to search for English-language articles published from 1946 - 201...

OBJECTIVE To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization. METHODS Cross-sectional study carried out in a university hospital that included seven patients...

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.