Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

DJ Birnkrant, K Bushby, CM Bann, BA Alman… - The Lancet …, 2018 - thelancet.com
A coordinated, multidisciplinary approach to care is essential for optimum management of
the primary manifestations and secondary complications of Duchenne muscular dystrophy …

New perspectives on osteogenesis imperfecta

A Forlino, WA Cabral, AM Barnes… - Nature Reviews …, 2011 - nature.com
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder.
The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by …

Bisphosphonate therapy for osteogenesis imperfecta

K Dwan, CA Phillipi, RD Steiner… - Cochrane database of …, 2016 - cochranelibrary.com
Background Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal
type I collagen bone matrix which typically results in multiple fractures with little or no …

Osteogenesis imperfecta

JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

P Trejo, F Rauch - Osteoporosis International, 2016 - Springer
Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in
children. It has been known for three decades that the majority of individuals with OI have …

Osteogenesis imperfecta: new perspectives from clinical and translational research

JT Tauer, ME Robinson, F Rauch - Journal of Bone and Mineral …, 2019 - academic.oup.com
Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …

Osteogenesis imperfecta

FH Glorieux, D Rowe - Pediatric bone, 2012 - Elsevier
Publisher Summary Osteogenesis imperfecta (OI) or “brittle bone disease” is characterized
by reduced skeletal mass and bone fragility. OI has served as the paradigm for heritable …

The management of osteoporosis in children

LM Ward, VN Konji, J Ma - Osteoporosis International, 2016 - Springer
This article reviews the manifestations and risk factors associated with osteoporosis in
childhood, the definition of osteoporosis and recommendations for monitoring and …

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

N Bishop, S Adami, SF Ahmed, J Antón, P Arundel… - The Lancet, 2013 - thelancet.com
Background Children with osteogenesis imperfecta are often treated with intravenous
bisphosphonates. We aimed to assess the safety and efficacy of risedronate, an orally …

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study

LM Ward, F Rauch, MP Whyte, J D'astous… - The Journal of …, 2011 - academic.oup.com
abstract Context: Information on the use of oral bisphosphonate agents to treat pediatric
osteogenesis imperfecta (OI) is limited. Objective: The objective of the investigation was to …