Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada. Electronic address: jocelyn.srigley@cw.bc.ca.
Division of Hematology, Oncology and Palliative Care, Massey Cancer Center, Virginia Commonwealth University, Richmond, Va; Department of Pediatrics, Baylor College of Medicine, Houston, Tex. Electronic address: audra.iness@bcm.edu.
Osteogenesis imperfecta (OI) describes a group of rare diseases which are associated with an increased tendency to bone fractures. In addition to the main symptom of fractures, OI is characterized by ...
Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin corneas, low ocular rigidity, keratoconus, among others. ...
Cross-sectional case-control study including 37 OI patients and 37 age-matched controls. Patients and controls underwent comprehensive ophthalmological examination including corneal Scheimpflug tomogr...
Most OI patients had type I disease (n = 24; 65%) but type III-VII patients were also included. Two patients had clinically overt bilateral keratoconus. OI patients had significantly higher maximum ke...
OI patients showed significant changes in corneal profiles compared with healthy subjects. A high proportion of patients had tomographically suspect corneas when using keratoconus diagnostic indices. ...
Osteogenesis imperfecta (OI) is an extracellular matrix disorder characterized by defects in collagen-1 transport or synthesis, resulting in bone abnormalities. Although reduced collagen in OI hearts ...
Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility. Type I OI is the most common type of OI, and is autosomal dominantly-inherited. Type I OI develops due to pathoge...
To report a father and his daughter who were diagnosed with glaucoma and OI type I....
Case report....
A 58-year-old man and his 31-year-old daughter were diagnosed with OI type 1 [NM_000088.4 (COL1A1): c.3008del (p.Pro1003fs)]. In addition, both subjects had glaucomatous optic neuropathy....
In this report, we presented a pathogenic variant in a father and his daughter with OI and coexisting glaucoma. The abnormalities in collagen may contribute to the risk of glaucoma development in pati...
Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones and long bone deformity. Realignment and intramedullary rodding with telescopic rods are indicated for progressive def...
Patients with OI at a single institution who underwent lower extremity telescopic rod placement with at least 1-year follow-up were identified. Bent rods were identified, and for these bone segments, ...
One hundred sixty-eight telescopic rods in 43 patients were identified. Forty-six rods (27.4%) bent during follow-up, with an average angulation of 7.3 (range: 1 to 24) degrees. In patients with sever...
Bending is a common complication of telescopic rods in the lower extremities of patients with OI. It is more common in independent ambulators and patients with nonsevere OI, possibly because of the in...
Level III-Retrospective review....
Osteogenesis imperfecta (OI) is associated with short stature, which is mild, severe and moderate in OI types I, III and IV, respectively. Standardized OI type- and sex-specific growth charts across a...
We assessed 573 individuals with OI (type I, III or IV), each with at least one height measurement between ages 3 months and 20 years (total 6523 observations). Analogous to the Centers for Disease Co...
Age was associated with a decline in height z-scores (p < 0.001 for all OI types), which was more pronounced in females. Height multiplier curves were produced to predict adult height in children with...
Our standardized OI type- and sex-specific growth charts can be used to assess the growth of individuals with OI from infancy to adulthood....
Standardized osteogenesis imperfecta (OI) type- and sex-specific growth charts across all pediatric ages do not exist. Our study is the first to generate OI type- and sex-specific growth charts across...
IRB approved retrospective review of the the SHOnet (Shriners Health Outcomes Network)....
Osteogenesis imperfecta (OI) is the most prevalent genetic disorder of bone and connective tissue in the pediatric population, with an incidence of 1/15,000-20,000. Scoliosis has been reported to be p...
IRB approved retrospective review of the the SHOnet (Shriners Health Outcomes Network), electronic health record data warehouse from January 1, 2011 and December 31, 2017. Inclusion criteria included ...
There were 2372 patients with osteogenesis imperfecta, 429 or 18.1% also had a diagnosis of scoliosis, while 81.9% did not (see Table 1). Only 74 patients (17.2%) of the patients that had scoliosis un...
With over 2300 patients, this is the largest study to date on scoliosis in patients with OI. We found that contrary to prior studies which had indicated the incidence of scoliosis ranges from 39 to 10...
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. ...
Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. Thi...
Osteogenesis imperfecta is a congenital disease that presents with varying degrees of connective tissue symptoms, including susceptibility to fracture, growth disorders and hearing loss. Here, we disc...
