Occlusion is the way in which the dental arches are related to each other and depends on craniofacial growth and development. It is affected in patients with Osteogenesis Imperfecta (OI) who present a...
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones and skeletal deformities. Individuals with OI may have dental abnormalities such as dentinogenesis imperfecta (DI...
This study aimed to evaluate facial photoanthropometric parameters in patients with OI....
We selected 20 Brazilian patients diagnosed with OI treated at the Extension Service for Minors in Need of Specialized Treatment of the Dentistry Course at the Federal University of Ceará (Fortaleza, ...
Horizontally shortened ears (p<0.001) but larger in height in relation to the face (p=0.012) were shown to be alterations belonging to individuals with OI....
OI patients present distinct photoanthropometric parameters inherent in this condition....
Osteogenesis Imperfecta (OI) is a disease that causes bone fragility and deformities, affecting both the cranial base and the craniocervical junction, and may lead to other neurological disorders. A r...
Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fract...
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...
Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying het...
Whole-exome analyses were conducted to search for sequence variants associated with the disorder, and micro-computed tomography (μCT) to characterize the enamel defects....
The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were a...
Heterozygous LAMA3 mutations can cause generalized enamel defects (AI1A) with variable expressivity. Laminin-332 is critical not only for appositional growth but also enamel maturation....
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 genetic defect in collagen type I, phenotypically characterized by bony fragility and a propensity to high rates of childhood fracture. Fragility fractures in patient...
A review of all patients at a single OI referral center was conducted, including all patients with a diagnosis of OI seen between 2013 and 2023, inclusive. All patients who underwent orthopaedic surge...
Eleven of 60 patients experienced an unplanned, iatrogenic intraoperative fracture during orthopaedic surgery (11/60 = 18.3%). This comprised 15 fractures among 356 total orthopaedic surgical episodes...
Iatrogenic fracture during orthopaedic surgery for patients with OI is not uncommon. A sizeable minority of patients with OI undergoing orthopaedic surgery will experience unplanned fractures, most co...
Level IV-retrospective cohort series....
