The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review

A Tsimicalis, G Denis-Larocque, A Michalovic… - Quality of Life …, 2016 - Springer
Purpose Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1: 10,000), leading
to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a …

Evaluating infants and young children with multiple fractures

C Jenny, Committee on Child Abuse and Neglect - Pediatrics, 2006 - publications.aap.org
Infants and toddlers with multiple unexplained fractures are often victims of inflicted injury.
However, several medical conditions can also cause multiple fractures in children in this age …

[HTML][HTML] The impact of severe osteogenesis imperfecta on the lives of young patients and their parents–a qualitative analysis

MJ Dogba, C Bedos, M Durigova, K Montpetit, T Wong… - BMC pediatrics, 2013 - Springer
Background Osteogenesis imperfecta (OI) is a rare genetic disorder that causes increased
bone fragility. Living with, caring for, and parenting a child with OI are all highly demanding …

Quality of life in osteogenesis imperfecta

RF Widmann, JF Laplaza, FD Bitan, CE Brooks… - International …, 2002 - Springer
The purpose of this study was to quantify the physical and mental health of a diverse adult
cohort of patients with osteogenesis imperfecta (OI) utilizing a validated health self …

[HTML][HTML] Exploring the impact of osteogenesis imperfecta on families: a mixed-methods systematic review

M Hill, C Lewis, M Riddington, B Crowe… - Disability and health …, 2019 - Elsevier
Abstract Background Osteogenesis Imperfecta (OI) is a rare genetic condition whose key
characteristic is increased bone fragility. OI has the potential to impact upon all family …

Comprehensive rehabilitation of the child with osteogenesis imperfecta

H Binder, A Conway, S Hason… - American journal of …, 1993 - Wiley Online Library
Children with osteogenesis imperfecta (OI) that results in considerable deformity are often
viewed as poor candidates for aggressive physical therapy and rehabilitation. To determine …

Psychosocial aspects of osteogenesis imperfecta: an update

DEC Cole - American journal of medical genetics, 1993 - Wiley Online Library
Osteogenesis imperfecta (OI) is an inherited disorder in which affected individuals are
stigmatized by virtue of physical differences from their peers. The extent to which these …

[PDF][PDF] Difficulties experienced by caregivers of patients diagnosed with osteogenesisimperfecta (OI): example of a hospital

LB Arabaci, S Bozkurt, S Vara, S Ozen, S Darcan… - J Pak Med …, 2015 - academia.edu
Objective: To identify the difficulties experienced by medical caregivers of inpatients
diagnosed with osteogenesisimperfecta. Methods: The descriptive, cross-sectional study …

Non-cutaneous conditions clinicians might mistake for abuse

JB Metz, KA Schwartz, KW Feldman… - Archives of disease in …, 2014 - adc.bmj.com
Objective To determine the frequency of non-cutaneous mimics identified in a large,
multicentre cohort of children evaluated for physical abuse. Methods Prospectively planned …

The natural histories of bone dysplasias in adults—Vignettes, fables and just‐so stories

RM Pauli - American Journal of Medical Genetics Part C …, 2007 - Wiley Online Library
The bone dysplasias are a heterogeneous group of disorders arising from intrinsic
abnormality of bone and cartilage growth and function. All are genetic. Most result in …