Osteogenesis Imperfecta (OI)
Charles Theisler in Adjuvant Medical Care, 2023
Osteogenesis imperfecta (OI) means imperfect bone formation and is also known as brittle bone disease. OI is a genetic disorder characterized by bones that break easily, often from little or no apparent trauma. There are eight recognized forms of 01.1 OI can cause weak muscles, brittle teeth, a curved spine, and hearing loss. With a curved spine there is limited space for the lungs, which are already compromised from lack of collagen, to properly expand.1 Patients with OI are more vulnerable to lung problems, including asthma and pneumonia. In fact, respiratory failure is the most common cause of death in patients with 01.2 Because OI is a genetic disorder of collagen (abnormal type 1 collagen), and not a calcium or nutrient deficiency, there are no foods or supplements that can cure OI.3
Beyond the fetal patient: the ethics of fetal treatment for Down syndrome
Dagmar Schmitz, Angus Clarke, Wybo Dondorp in The Fetus as a Patient, 2018
One may think that safe and effective neurocognitive treatment for DS is as obviously a good thing as safe and effective treatment for osteogenesis imperfecta (OI), the ‘brittle bones’ disorder for which fetal therapy is currently being developed (as discussed in the chapter by Verweij). Much as reducing the risk of fractures for persons born with OI can be expected to improve their quality of life by allowing them to maintain independent mobility, a similar benefit would seem to result from limiting the degree of intellectual disability for persons born with DS. Raising their IQ will enable people with DS to have more control over their own lives, thus also taking away what they may experience as a source of frustration (Solomon, 2012). In addition to serving as a highly useful ‘general purpose means’ necessary for all possible life plans that a person may have (Buchanan et al., 2000: 167), the ability to reason tends to be regarded as an essential part of human flourishing in itself (Nussbaum, 2009). How would promoting this ability in persons with DS be anything else but a morally worthwhile aim? Moreover, parents of children with DS would benefit considerably by being freed from the responsibilities related to their child’s lifelong dependence and the connected concerns about who will take care of the child when they themselves are old and frail or have died (Skotko et al., 2011).
Distal tibial fractures
Charles M Court-Brown, Margaret M McQueen, Marc F Swiontkowski, David Ring, Susan M Friedman, Andrew D Duckworth in Musculoskeletal Trauma in the Elderly, 2016
Non-operative management of intra-articular fractures of the distal tibia has proven to be less successful. In a small case series of 19 pilon fractures, Ayeni reported good clinical outcomes in 11 Rüedi and Allgöwer type I fractures treated non-operatively but universally poor clinical outcomes in the three type II fractures treated non- operatively.14 Kellam and Waddell classified 26 pilon fractures into two groups based on fracture pattern (rotational versus compressive).15 For both groups, clinical results after non-operative treatment were inferior to those obtained with surgical treatment, and non-operative treatment was only successful in rotational injuries that did not displace over the course of treatment. Based on these and other case series, non- operative treatment is best reserved for non- displaced intra-articular distal tibia fractures that are unlikely to displace during cast immobilization. In addition, non- operative management may still be the preferred method of treatment for certain elderly patients with intra-articular distal tibia fractures. Non-ambulatory patients (including those with quadriplegia or paraplegia), patients with absolute contraindications to surgical treatment (critical aortic stenosis or other unstable cardiopulmonary conditions) and those with limited functional capacity (dementia/Alzheimer) or metabolic bone diseases such as osteogenesis imperfecta may be best served with non-surgical treatment (Figure 41.2).
Validation of the Adolescent Pediatric Pain Tool for the Multidimensional Measurement of Pain in Children and Adolescents Diagnosed with Osteogenesis Imperfecta
Published in Canadian Journal of Pain, 2019
Madalina Boitor, Céline Gélinas, Frank Rauch, Eufemia Jacob, Sylvie LeMay, Jaimie Isabel Carrier, Claudette Bilodeau, Argerie Tsimicalis
Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder characterized mainly by fractures, bone deformity, and short stature, in addition to the possible involvement of other organ systems.1 Though there is no cure for OI, clinical management involves rehabilitation, occupational and physical therapy, orthopedic surgery, and pharmacological therapy.2,3 Bisphosphonate therapy is the most widely used pharmacological treatment shown to increase the areal bone mineral density.4–6 However, long-bone fractures are still frequent.3 Acute pain is mainly fracture related and reaches moderate to severe intensity in most children with OI, whereas nonfracture pain is less intense and experienced 50% of time.7 Regardless of intensity, pain is present, complex in quality, and located in several sites in children and adolescents with OI.8
Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review
Published in Annals of Medicine, 2021
S. Storoni, S. Treurniet, D. Micha, M. Celli, M. Bugiani, J. G. van den Aardweg, E. M. W. Eekhoff
Osteogenesis Imperfecta (OI) is a rare inheritable condition commonly caused by mutations in genes (COL1A1 and COL1A2) encoding collagen type I which is essential for healthy bone formation. Clinically, OI is primarily characterized by bone fragility, small stature, skeletal deformity, ligament laxity, blue sclerae, dentinogenesis imperfecta, hearing impairment, and cardiopulmonary disease. According to the Sillence classification OI type I is the least severe form and is mostly characterized by an insufficient level of synthesized collagen leading to a limited number of fractures. OI type II, III, and IV are mainly characterized by structural alterations in type I collagen; OI type II is perinatally lethal, OI type III is characterized by progressive deformations, multiple fractures, very short stature, and wheelchair dependency and type IV is relatively mild with a variable number of fractures [1–6].
Reduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study
Published in Acta Odontologica Scandinavica, 2021
L. Staun Larsen, K. J. Thuesen, H. Gjørup, J. D. Hald, M. Væth, M. Dalstra, D. Haubek
Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in collagen type-1 encoding genes [1]. The disease affects the connective tissue, leading to a heterogeneous spectrum of clinical symptoms. The main clinical symptom is fragile bones with an increased risk of fractures early in life. In Denmark, the prevalence of OI is estimated to 11 per 100,000 [2]. The major causes of OI are autosomal dominant mutations in one of the two genes, COL1A1 and COL1A2 [3–5] that encode the α1(I) and the α2(I) chains of collagen type-1, respectively. Collagen type-1 is an important component of bone and dentine, and mutations can lead to either quantitative or qualitative abnormalities; i.e. a reduced volume of structurally normal collagen or an abnormally structured collagen, respectively [6].
Related Knowledge Centers
- Bone
- Dentinogenesis Imperfecta
- Hearing Loss
- Skeleton
- Bone Fracture
- Sclera
- Complication
- Genetic Disorder
- Short Stature
- Hypermobility