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]

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]

• Atrial Septal Defect

  OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely. 1. [hindawi.com]

• Platyspondyly

  Angled diaphysis, axial diaphyseal displacement and a conserved vertebral body height in the prenatal period support the diagnosis of osteogenesis imperfecta type 2, while moderately regular bowed diaphysis associated with platyspondyly that of thanatophoric [ncbi.nlm.nih.gov]

  Curr Opin Pharmacol. 2002 Dec;2(6):748-53 blue sclerae osteogenesis imperfecta platyspondyly [gpnotebook.com]

  Radiographic findings of type 2 OI consist of osteopenia of the skull with disturbance of intramembranous ossification, platyspondyly, small beaded ribs, severely deformed extremities and broad, crumpled, bent femurs [1-3]. [eurorad.org]

  Platyspondyly can be seen, though this is less severe than in thanatophoric dysplasia. Differential Diagnosis: Differentiation of the various forms of skeletal dysplasias may often be extremely difficult. [fetalsono.com]

  Lateral spinal radiograph in a 1-year-old boy with osteogenesis imperfecta (OI) demonstrates multilevel, mild platyspondyly. [emedicine.medscape.com]

• Hearing Impairment

  The physical examination demonstrated blue sclera, hypermobility of the joints, a triangular-shaped face and no hearing impairment or DI. [spandidos-publications.com]

  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]

  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]

• Denial

  It’s not difficult to imagine that the ensuing appeal/denial/hearing cycle can drag on for a very long time. [disabilitybenefitscenter.org]

• Ataxia

  […] multiple fractures during childhood severe cases present with fractures at birth and can be fatal number of fractures typically decreases as patient ages and usually stops after puberty basilar invagination presents with apnea, altered consciousness, ataxia [orthobullets.com]

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]

A few may survive with continued intensive treatment. [orpha.net]

Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 91: 1268, 2006. [link.springer.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]

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]

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 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]

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]

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]

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]

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 (OI) Type 2-B or 3: Investigating the Survivorship of a Patient 1Department of Pathophysiology, National and Kapodistrian University of Athens, Greece 2Department of Orthopaedics, Laikon General Hospital, Greece *Corresponding [gavinpublishers.com]

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]

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]

Glycationend products in osteoporosis — is there a pathophysiologic importance? Clin Chim Acta. 2006;371(1-2):32-36. doi: https://doi.org/10.1016/j.cca.2006.03.017 12. Farlay D, ArmasLA, Gineyts E, et al. [dia-endojournals.ru]

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]

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

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]