Presentation
This poor quality type I collagen is present in reduced amounts in the bone matrix. [oif.org]
Presents at preschool age (tarda). [orthobullets.com]
However, most commonly OI presents in childhood with multiple fractures after little or no trauma (type 1/4). Type 4 and 5 OI can be moderately severe, but are very variable. [boostb4.eu]
Methods Research Subjects The present report presents the results from a clinical and genetic investigation of a consanguineous family recruited from a remote area of Sindh province in Pakistan. [nature.com]
All the patients diagnosed in childhood presented with fractures during this period and 7 of them also presented with new fractures as adults (3 received biphosphonates). The 4 patients diagnosed as adults have had fractures. [reumatologiaclinica.org]
Entire Body System
- Developmental Delay
Significant care issues that arise with OI Type I include gross motor developmental delays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection. [oif.org]
A subset of patients have been seen with brain malformations and developmental delay. [emedicine.medscape.com]
delay Tags Green Green List (high evidence) NOTCH2 5 reviews 2 green 1 red MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Osteogenesis Imperfecta and Decreased Bone Density [panelapp.genomicsengland.co.uk]
- Fatigue
Significant care issues that arise with OI Type IV include the need to prevent fracture cycles; the appropriate timing of rodding surgery; scoliosis monitoring; the need to develop strategies for coping with short stature and fatigue; the family’s need [oif.org]
Additional symptoms include respiratory complications, fatigue, hearing loss, dentinogenesis imperfecta and other oral cavity problems.” [mobilitymgmt.com]
General fatigue during daily activities is a common complaint and because muscle strength and exercise tolerance is reduced in OI, maintaining physical health is paramount to good general health. [nature.com]
Respiratoric
- Cough
Over the ensuing 10 years her symptoms remained well controlled by leading a careful and sedate lifestyle; only coughing remained a frequent problem. [jnnp.bmj.com]
Hug his teddy bear when he coughs Ask for pain medicine before he coughs Take a sip of water before coughing Try very hard not to cough 9. [docshare.tips]
Has signs of a cold or flu, like a fever or cough [hopkinsmedicine.org]
Has signs of a cold or flu, like a fever or cough Key points about osteogenesis imperfecta in children Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. [stlouischildrens.org]
Has signs of a cold or flu, like a fever, chills, or cough Key points about osteogenesis imperfecta in children Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It's also known as brittle bone disease. [cedars-sinai.org]
Cardiovascular
- Mitral Valve Prolapse
Cardiac effects are important; they include aortic incompetence, aortic root widening and mitral valve prolapse. Often there is hypermobility of joints, with flat feet, hyper-extensible large joints and dislocations. [patient.info]
valve prolapse aortic regurgitation Anatomy Type I collagen is the most important structural protein of bone, skin, tendon, dentin, sclera triple helix structure two alpha-1 chains coded by genes COL1A1 one alpha-2 chain coded by gene COL1A2 triple helix [orthobullets.com]
The risk due to heart disease (mitral and aortic valve insufficiency, mitral valve prolapse, aortic expansion and aortic or peripheral vascular dissection) are hazards that may occur in young adults and increase in incidence with age. [clinicaladvisor.com]
Some patients also have neurological problems such as macrocephaly (large head) and basilar invagination (brain stem distortion), and cardiac problems such as mitral valve prolapse and aortic root dilatation (Hortop et al, 1986). [nursingtimes.net]
Difficulties swallowing solid foods in more serious forms of OI. [6] Cardiac Heart valve problems such as aortic valve insufficiency, aortic aneurysm, mitral valve regurgitation, and mitral valve prolapse. [7] Respiratory Restrictive pulmonary disorder [physio-pedia.com]
- Hypertension
0005855 Neonatal short-limb short stature Short limb dwarfism recognizable at birth Short-limb dwarfism identifiable at birth Short-limbed dwarfism identifiable at birth [ more ] 0008921 Platybasia 0002691 Protrusio acetabuli 0003179 Pulmonary arterial hypertension [rarediseases.info.nih.gov]
Artery territory) and left thalamus, midbrain peduncle, occipitotemporal and bilateral calcarine fissure cortex hypodensities corresponding to outlying ischemia in Posterior Cerebral Artery territory without signs of brain hemorrhage or intracranial hypertension [medcraveonline.com]
This may progress to pulmonary hypertension and subsequent cor pulmonale, requiring oxygen support. Mitral valve prolapse and aortic dilatation with or without regurgitation have also been reported. [nature.com]
His past medical history was also significant for hypertension and bleeding hemorrhoids. There was no history of spontaneous bleeding, easy bruising, or excessive surgical bleeding. [pubs.asahq.org]
Eyes
- Prolapse
Cardiac effects are important; they include aortic incompetence, aortic root widening and mitral valve prolapse. Often there is hypermobility of joints, with flat feet, hyper-extensible large joints and dislocations. [patient.info]
[…] teeth wormian skull bones (puzzle piece intrasutural skull bones) hypermetabolism increased risk of malignant hyperthermia hyperhidrosis, tachycardia, tachypnoea, heat intolerance thin skin prone to subcutaneous hemorrhage cardiovascular mitral valve prolapse [orthobullets.com]
Patients with severe OI can also experience hernias, heart valve prolapse, and mixed conductive and sensorineural hearing loss, which all increase in frequency with age. Current therapies Management of OI is multidisciplinary. [jci.org]
The risk due to heart disease (mitral and aortic valve insufficiency, mitral valve prolapse, aortic expansion and aortic or peripheral vascular dissection) are hazards that may occur in young adults and increase in incidence with age. [clinicaladvisor.com]
Some patients also have neurological problems such as macrocephaly (large head) and basilar invagination (brain stem distortion), and cardiac problems such as mitral valve prolapse and aortic root dilatation (Hortop et al, 1986). [nursingtimes.net]
Musculoskeletal
- Osteoporosis
They are used widely in the treatment of osteoporosis in adults and have reduced the risk of fractures in women with postmenopausal osteoporosis, men with osteoporosis, and patients with glucocorticoid-induced osteoporosis in multiple clinical trials. [uptodate.com]
In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels, and skin 4. [radiopaedia.org]
General radiographic features of osteogenesis imperfecta The radiologic sine qua non of osteogenesis imperfecta is generalized osteoporosis of both the axial and appendicular skeleton. [emedicine.medscape.com]
Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.ro]
Juvenile idiopathic osteoporosis: onset around puberty, vertebral fractures at onset, low BMD, resolves after puberty Celiac disease: May or may not have GI symptoms of malabsorption, osteoporosis. [clinicaladvisor.com]
- Arthritis
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out [rarediseases.info.nih.gov]
Strangely, in this study, arthritis of the hip with no clear causative mechanism was found in several family members with OI type V and a sporadic case. We hypothesized that this arthritis may be caused by the same pathogenic mechanism. [frontiersin.org]
Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases Present On Admission POA Help "Present On Admission" is defined as present at the [icd10data.com]
Hormone Research; 68(5):8-11. 2007. ↑ National Institute of Arthritis and Musculoskeletal and Skin Diseases. [physio-pedia.com]
QID: 3639 Osteogenesis imperfecta (OI) Ellis-van Creveld (EVC) syndrome/chondroectodermal dysplasia Juvenile idiopathic arthritis (JIA) L 2 C Select Answer to see Preferred Response Sorry, this question is for PEAK Premium Subscribers only (OBQ10.265) [orthobullets.com]
- Coxa Vara
vara present Imaging Radiographs thin cortices generalized osteopenia saber shins skull radiographs reveal wormian bones coxa vara Evaluation Labroratory mildly elevated ALP Histology increased diameter of haversion canals and osteocyte lacunae replicated [orthobullets.com]
Short stature, Coxa vara, and shorter leg bones, humerus, and femur are common in Type VII OI. The appearance and symptoms of some cases of OI Type VII are analogous to OI Types IV in many aspects. [news-medical.net]
vara general severe osteoporosis deformed, gracile (over-tubulated) bones cortical thinning hyperplastic callus formation popcorn calcification : the metaphyses and epiphyses exhibit numerous scalloped radiolucent areas with sclerotic margins 1 zebra [radiopaedia.org]
Coxa vara is common. OI Type VII results from recessive inheritance of a mutation in the CRTAP gene. Partial (10%) expression of CRTAP leads to moderate bone dysplasia. [oif.org]
Type VII : this is a moderate-to-severe recessive form, characterised by fractures at birth, bluish sclerae, early deformity of the lower extremities, coxa vara and osteopenia [ 5 ]. [patient.info]
- Narrow Pelvis
Radiological Examination Radiographic examination of an affected member (IV-2) revealed a severe form of osteopenia, scoliosis, kyphoscoliosis, thoracolumbar scoliosis, deformed narrow pelvis, rhizomelic shortening of the hands and feet, tapering ribs [nature.com]
Eventually, the wide rib cage overlaps the narrow pelvis. Basilar invagination is an uncommon but potentially fatal occurrence in OI. Vertigo is common in patients with severe OI. [emedicine.medscape.com]
pelvis, compression fractures, protrusio acetabuli, and shepherd's crook deformities of the femurs Densitometry - DEXA can be used to assess bone mineral density (BMD) in children with milder forms of OI. [ijem.in]
His skeletal survey showed wormian bones, severe osteopenia, severe thoracolumbar scoliosis, narrow pelvis, tapering ribs with depression of the right chest wall, rhizomelic shortening of upper and lower limbs, acetabular protrusion, bilateral femorotibial [karger.com]
- Joint Dislocation
He also reported of multiple fractures and frequent joint dislocations secondary to minor trauma. The dental findings were identical to that of the younger sibling, but there was no evidence of delayed eruption (Figure 5). [hindawi.com]
Additional symptoms associated with OI type I include loose (hyper extensible) joints and low muscle tone (hypotonia). This may result in a predisposition to joint dislocations and ligament sprains. Some patients have skin that bruises easily. [rarediseases.org]
dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Tags Red Red List (low evidence) CLCN5 3 reviews 3 red Not set Sources Emory Genetics Laboratory Expert Review Red Phenotypes Osteogenesis Imperfecta and Decreased [panelapp.genomicsengland.co.uk]
Neurologic
- Intracranial Hemorrhage
Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. Pulmonary hypoplasia has been previously observed in OI type II, but has not been defined clinically. [jhu.pure.elsevier.com]
Because the skull is soft, trauma during delivery may cause intracranial hemorrhage and stillbirth, or neonates may die suddenly during the first few days or weeks of life. [msdmanuals.com]
Multiple fractures and intracranial hemorrhage may cause a death in the perinatal period. The prognosis and performance of the affected individuals varies with the type of the disease and phenotype. [thefetus.net]
1 Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 53 62 57 5 19208385 2009 2 A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis [malacards.org]
Workup
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
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]
None of the patients required iv Ca substitution during any treatment cycle. [academic.oup.com]
Management and Treatment How is osteogenesis imperfecta (OI) treated? The goal of treatment is to increase bone strength and help people with OI live more independently. [my.clevelandclinic.org]
Scientists are now studying and exploring new medications and treatments for OI. However, these treatments have not been proven yet, and they need to conduct clinical trials. [healthmagaz.com]
The study site pharmacist will be unmasked to treatment allocation throughout. Study treatment will be monitored by a separate unmasked monitoring team. [clinicaltrials.gov]
Prognosis
Prognosis - Osteogenesis imperfecta- type 3 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.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]
This is especially the case in childhood, when the need for a predictive prognosis is the greatest. [jamanetwork.com]
The prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]
Etiology
Etiology OI type III can be autosomal dominant and caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively), or it can be autosomal recessive and caused by mutations of the CRTAP gene (3p22) (sometimes described as OI [orpha.net]
However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.ro]
[…] collagen gives bones strength epidemiology of osteogenesis imperfect (relevance) -50% chance of passing gene and disease to their children -americans 25, 000-50,000 affected (often goes undiagnosed) -35% children born with no family history of it ` etiology [quizlet.com]
Epidemiology
Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type III is unknown. [orpha.net]
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.ro]
[…] osteogenesis imperfecta definition -diagnosis which causes brittle bones which are highly susceptible to fractures -individual has a change in collagen production -collagen gives bones strength epidemiology of osteogenesis imperfect (relevance) -50% chance [quizlet.com]
Pathophysiology
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]
The basic pathophysiology for OI is the mutation in the gene coding for type I collagen [3]. The most widely accepted classification was proposed by Sillence et al. in 1979 [4]. [hindawi.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]
Prevention
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]
People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [checkorphan.org]
These are used to prevent deformity and promote support or protection. [stanfordchildrens.org]
Prevention How can I prevent brittle bone disease? Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. [my.clevelandclinic.org]