Osteogenesis imperfecta

@article{Rauch2004OsteogenesisI,
  title={Osteogenesis imperfecta},
  author={Frank Rauch and Francis H Glorieux},
  journal={The Lancet},
  year={2004},
  volume={363},
  pages={1377-1385}
}
Osteogenesis imperfecta (OI), an inherited skeletal disorder characterized by low bone mass, bone fragility, and often short stature. The clinical severity varies widely from being nearly asymptomatic with a mild predisposition to fractures, normal stature and normal lifespan being to profoundly disabling and even lethal. Extra skeletal manifestations may include blue-grey sclera and dental abnormalities. Initially, the classification of OI into four types was based on clinical findings, but… Expand
Osteogenesis Imperfecta: Update on presentation and management
TLDR
Cyclical intravenous pamidronate is now the standard of care for moderately to severely affected children with OI, given in combination with good orthopedic, physiotherapy and rehabilitation programs. Expand
Animal models of osteogenesis imperfecta and craniofacial development
TLDR
The genetic mutations implicated in the eight different types of OI are reviewed, then, the craniofacial consequences of Oi mutations are summarized. Expand
UP-TO-DATE CLASSIFICATION AND TREATMENT IN OSTEOGENESIS IMPERFECTA
The term of osteogenesis imperfecta (OI) includes a heterogeneous group of genetic disorders of connective tissue and has as the main form of expression recurrent fractures, skeletal fragility andExpand
BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA
TLDR
Life style modifications by adaptive equipments, oral drugs and Intramedullary rod insertions, provide a significant degree of autonomy to OI patients to prevent fracture and maintain mobility. Expand
Recent Advances in Osteogenesis Imperfecta
  • T. Cundy
  • Biology, Medicine
  • Calcified Tissue International
  • 2012
TLDR
Bisphosphonates are widely used in patients with osteogenesis imperfecta, but some important questions about their optimal usage, their utility in children and adults with milder phenotypes, and their potential adverse effects are not yet resolved. Expand
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
TLDR
Osteogenesis imperfecta type I and to a lesser extent type IV are important differential diagnostic considerations in case of suspicion of non-accidental injury (NAI) and DNA analysis of the dominant COL1A1 andCOL1A2 genes is currently the starting point for laboratory diagnosis unless there are strong indications for a recessive cause. Expand
Infant with Osteogenesis Imperfecta and Panhypopituitarism: A Case Report
TLDR
A Malay boy diagnosed with osteogenesis imperfecta at 3 months old was referred at the age of 2.2 years old for poor growth and severe failure to thrive and was stunted and wasted. Expand
Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort
TLDR
OI is debilitating disorder, but the course of the disease may be altered by treatment that increases BMD such as bisphosphonates and rhPTH, and both serial BMD and BTM aid in assessing response to intervention. Expand
A rare case of osteogenesis imperfecta combined with complete tooth loss
TLDR
This is the first report of an OI patient with a phenotype of complete tooth loss at a young age, and it is conceivable that the severity of the clinical phenotype may result from additional mutations in candidate genes responsible for abnormal dental phenotypes in this family. Expand
Osteogenesis imperfecta type V
TLDR
It is reported that while not all OI type V patients have hypertrophiccallus formation, all patients with hypertrophic callus formation are OItype V in the proper clinical context. Expand
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TLDR
Two new approaches using the aminobisphosphonates and stromal cell transplantation now deserve the critical attention in osteogenesis imperfecta. Expand
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TLDR
Pamidronate treatment of severe forms of OI is an effective therapeutic modality to increase bone density, decrease fracture rate, increase mobility and improve quality of life, irrespective of the severity of the mutation or clinical phenotype. Expand
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