The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

M Rapoport, MB Bober, C Raggio, LL Wekre… - Orphanet Journal of …, 2023 - Springer
Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder
primarily characterised by skeletal deformity and fragility, and an array of secondary …

[HTML][HTML] A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia

N Billich, K O'Brien, SO Fredwall, M Lee… - Genetics in …, 2023 - Elsevier
Purpose Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common
nutrition issues include feeding difficulties, obesity, and metabolic complications. This …

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study

K Machol, TD Hadley, J Schmidt… - American Journal of …, 2020 - Wiley Online Library
Hearing loss (HL) is an extra‐skeletal manifestation of the connective tissue disorder
osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of …

Body composition in children and adolescents with osteogenesis imperfecta

T Palomo, FH Glorieux, E Schoenau, F Rauch - The Journal of pediatrics, 2016 - Elsevier
Objective To use peripheral quantitative computed tomography to determine the cross-
sectional area (CSA) of subcutaneous fat and muscle (fat CSA, muscle CSA) in transverse …

Mobility in osteogenesis imperfecta: a multicenter North American study

KM Kruger, A Caudill, M Rodriguez Celin… - Genetics in …, 2019 - nature.com
Purpose Osteogenesis imperfecta (OI) is a genetic connective tissue disorder that causes
bone fragility. Phenotypic severity influences ability to walk, however, little is known about …

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

EL Germain-Lee, FS Brennen, D Stern, A Kantipuly… - Pediatric …, 2016 - nature.com
Background: There is strikingly limited information on linear growth and weight in the
different types of osteogenesis imperfecta (OI). Here, we define growth patterns further with …

Temporomandibular joint and cervical spine mobility assessment in the prevention of temporomandibular disorders in children with osteogenesis imperfecta: a pilot …

KM Małgorzata, P Małgorzata, S Kinga… - International Journal of …, 2021 - mdpi.com
Osteogenesis imperfecta is a heterogeneous group of hereditary disorders of connective
tissue diseases characterized by increased bone fragility, low growth, sometimes …

Osteogenesis imperfecta: the impact of genotype and clinical phenotype on adiposity and resting energy expenditure

KL Ballenger, N Tugarinov… - The Journal of …, 2022 - academic.oup.com
Context Mutations in type I collagen or collagen-related proteins cause osteogenesis
imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced …

Height prediction of individuals with osteogenesis imperfecta by machine learning

H Yang, W Zhu, B Li, H Wang, C Xing, Y Xiong… - Orphanet Journal of …, 2024 - Springer
Background Osteogenesis imperfecta (OI) is a genetic disorder characterized by low bone
mass, bone fragility and short stature. There is a significant gap in knowledge regarding the …

[HTML][HTML] Imaging in osteogenesis imperfecta: Where we are and where we are going

S Gazzotti, R Sassi, MPA Gómez, A Moroni… - European Journal of …, 2024 - Elsevier
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group
of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and …