The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. [ncbi.nlm.nih.gov]

Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling [orpha.net]

• Collapse

  Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. [ncbi.nlm.nih.gov]

  When the accompanying potential financial struggles are added in, suddenly the world feels as though it is collapsing around you. [disabilitybenefitscenter.org]

• Sudden Infant Death Syndrome

  The infant had an uncomplicated course during the neonatal period and was healthy during early infancy. However, he died unexpectedly at 6 weeks of age with the cause of death being attributed to sudden infant death syndrome (SIDS). [jmg.bmj.com]

• Hearing Impairment

  In some cases, individuals with OI type I may develop abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment (i.e., conductive and/or sensorineural hearing loss). [rarediseases.org]

  In general, four major clinical features characterize osteogenesis imperfecta 5 : osteoporosis with abnormal bone fragility blue sclera dentinogenesis imperfecta hearing impairment Other features include ligamentous laxity and hypermobility of joints, [radiopaedia.org]

  impairment Deafness Hearing defect [ more ] 0000365 Kyphosis Hunched back Round back [ more ] 0002808 Otosclerosis 0000362 Recurrent fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree [rarediseases.info.nih.gov]

Osteogenesis Imperfecta: Differential Diagnosis & Workup. http://emedicine.medscape.com/article/1256726-diagnosis. Website updated: 2008. Website accessed: April 5, 2010. ↑ Gahagan S, Rimsza ME. [physio-pedia.com]

Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]

Treatment Currently, there is no known cure for osteogenesis imperfecta. The primary focus of treatment is on preventing injuries and maintaining healthy bones. [verywell.com]

The affected child received further treatment initially stationary, later as an ambulant patient. [degruyter.com]

Treatment There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement. [webmd.com]

This treatment involves inserting metal rods through the length of the long bones to strengthen them. The treatment also prevents and/or corrects deformities. [checkorphan.org]

Osteogenesis Imperfecta treatment There is no known cure for Osteogenesis Imperfecta. Current treatments focus on minimizing pain, fractures and bony deformities. Our goal is to help OI children live better, more fulfilling lives. [childrensortho.com]

Prevention, and Complications Prognosis recurrent fractures no cure for disease Prevention screening for mutation in family members prenatal screening with chorionic villus sampling Complications recurrent fractures leads to deformity and chronic pain [medbullets.com]

Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy. [gwumc.edu]

The parents opted to interrupt the pregnancy, based on the diagnosis of a lethal skeletal dysplasia and the associated poor prognosis. The fetus was delivered at 25 weeks’ gestation. [sajr.org.za]

Prognosis - Osteogenesis imperfecta- type 6 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org]

Etiology OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant. [orpha.net]

However, these disorders, while clinically sharing some features of true OI, are better designated as separate conditions based on their unique molecular etiologies. Treatment Treatment Options: Avoidance of trauma is paramount. [disorders.eyes.arizona.edu]

Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown. [orpha.net]

Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown. [rarediseases.info.nih.gov]

EPIDEMIOLOGY AND PREVALENCE Osteogenesis Imperfecta occurs in approximately 1 in 20,000 live births. More than 200 gene mutations have been associated with the OI phenotype. [gwumc.edu]

Pathophysiology OI is the result of mutations affecting the synthesis and processing of type I collagen, the major protein in bone and connective tissue. [clinicaladvisor.com]

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

This classification scheme is likely to change with additional research on pathophysiology of OI. [nature.com]

A multidisciplinary approach is required to manage the disease. [1, 2, 3] Pathophysiology In OI, pathologic changes are seen in all tissues of which type 1 collagen is an important constituent (eg, bone, ligament, dentin, and sclera). [emedicine.medscape.com]

Surgery may be performed to correct and prevent deformities in children with OI severe enough to prevent walking. Correction of scoliosis may also be helpful, but difficult due to bone fragility. [myvmc.com]

Broken bones in children with osteogenesis imperfecta are often treated with surgery in order to stabilize the bones and prevent deformities. [verywell.com]

and Complications Prognosis recurrent fractures no cure for disease Prevention screening for mutation in family members prenatal screening with chorionic villus sampling Complications recurrent fractures leads to deformity and chronic pain may result [medbullets.com]

These are used to prevent deformity and promote support or protection. [stanfordchildrens.org]

People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [checkorphan.org]