OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. [orpha.net]

Case Presentation We present the case of a 43-year-old female. Shortly after birth, she presented a spontaneous right hip fracture. [ncbi.nlm.nih.gov]

Presents at preschool age (tarda). [orthobullets.com]

The patient has not presented fractures since the last application of the medication. [elsevier.es]

• Hyperkeratosis

  Glu176Lys de novo 12 M - 4 Hyperkeratosis, metatarsal and metacarpal fractures 2 Patient 44 PLEKHM1: c.2902-9C>T de novo 15 F + >9 Sensorineural hearing loss, decreased Bone mineral density (BMD), myopia, arthropathy 3 Patient 45 ERCC4: c.2395C>T, p. [mdpi.com]

• Hearing Impairment

  How common is hearing impairment in osteogenesis imperfecta? Journal of Laryngology and Otology. 2001;115(4):280–282. [PubMed] [Google Scholar] 7. Chines A, Boniface A, Mcalister W, Whyte M. [ncbi.nlm.nih.gov]

  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]

  Some individuals with OI type I may develop abnormalities affecting the middle and/or inner ears, contributing to, or resulting in hearing impairment. The incidence of hearing loss in patients with type I OI increases with age. [rarediseases.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]

• Thin Lips

  Six patients from two families shared suffered unexplained hip arthritis and characteristic facial features including wide set eyes, a flat nose, a broad jaw, a small mouth with thin lips and a short, wide forehead. [frontiersin.org]

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]

A few may survive with continued intensive treatment. The documents contained in this web site are presented for information purposes only. [orpha.net]

Results After two years of treatment all 4 patients were in a stable clinical condition. There was no treatment interruption based on unexpected side effects. [ojrd.biomedcentral.com]

[…] long-term positive results.7–9 Intravenous bisphosphonates were first suggested as a treatment to improve bone fragility in children with severe OI 25 years ago. [elsevier.es]

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. The main goal of treatment is to prevent deformities and fractures. [cedars-sinai.org]

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 prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]

The prognosis of OI type 2 is poor, with some of the fetuses already dead in utero. Most infants will die in the perinatal period, 60% during the first day. [eurorad.org]

Prognosis The majority of those identified of having type II changes antenatally will die either before birth or in the perinatal period. A few may survive with continued intensive treatment. [orpha.net]

This is especially the case in childhood, when the need for a predictive prognosis is the greatest. [jamanetwork.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]

Etiology Variants in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) cause OI type IIA and IIB, and transmission is autosomal dominant. [orpha.net]

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. [rarediseases.info.nih.gov]

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]

In 2011, mutations in SERPINF1 were identified as the molecular cause of OI type VI, and thereby a novel pathophysiology of the disease was elucidated. [ojrd.biomedcentral.com]

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]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]

Mutations can also be caused by CRTAP or PH3H1(LEPRE1) in an autosomal recessive pattern. [14] Pathophysiology The pathophysiology of osteogenesis imperfecta is primarily due to a dysfunction in collagen and is classified under connective tissue diseases [eyewiki.aao.org]

Etiology Pathophysiology can result from decreased collagen secretion production of abnormal collagen leads to insufficient osteoid production physeal osteoblasts cannot form sufficient osteoid periosteal osteoblasts cannot form sufficient osteoid and [orthobullets.com]

Treatments for preventing or correcting symptoms may include: Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. [cedars-sinai.org]

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]