Presentation
These genetic defects can be either a quantitative defect presenting with a milder presentation or a qualitative defect presenting with a more severe manifestation [1]. [hindawi.com]
At present, there is no effective therapy. The present report presents the case of a 15-year-old Chinese male with OI type I. Informed consent was obtained from the patient. [spandidos-publications.com]
All individuals presented CIM in the upper limbs, and 58% had DRH. [karger.com]
He is Executive Advisory Editor of Bone Research (2013-present). [books.google.com]
Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. These patients die at birth, or shortly after. [orpha.net]
Entire Body System
- Short Stature
Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, [ncbi.nlm.nih.gov]
Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). [orpha.net]
OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. [malacards.org]
Silence type I to IV Type-I: 70% of total case, bone density reduced 60% of normal, mild short stature & variable bone fragility. [slideshare.net]
- Movement Disorder
Her movement disorder has evolved, with orolingual dyskinesia triggered by pain and excitement causing recurrent lip and tongue biting, and involuntary limb posturing apparent on activity. [bone-abstracts.org]
Eyes
- Blue Sclera
Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. [malacards.org]
OI is characterized by the triad of fragile bones, blue sclera, and deafness [5]. [hindawi.com]
The physical examination demonstrated blue sclera, hypermobility of the joints, a triangular-shaped face and no hearing impairment or DI. [spandidos-publications.com]
White and blue sclerae were observed, and 21 individuals had DI. [karger.com]
Neurologic
- Excitement
Her movement disorder has evolved, with orolingual dyskinesia triggered by pain and excitement causing recurrent lip and tongue biting, and involuntary limb posturing apparent on activity. [bone-abstracts.org]
Workup
Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]
Treatment
Following four months of treatment, the symptoms and quality of life of the patient improved. This patient appears to be a rare case of OI type I. [spandidos-publications.com]
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 91: 1268, 2006. [link.springer.com]
Treatment of Scoliosis in Children The treatment of scoliosis is dependent on many factors, which include: The child’s age and medical history Causes Extent or severity of the condition Expected duration of treatment Opinions or preferences The goal is [lecturio.com]
Treatment of osteoclasts with LPS significantly increased levels of AEA. [medicalmarijuana.com]
Implant treatment is even more challenging if the patient is prescribed bisphosphonates. [journalimplantdent.springeropen.com]
Prognosis
Prognosis Functional prognosis depends on the severity of the disease and on the quality of management. Vital prognosis depends on the severity of any respiratory complications associated with spinal deformities. [orpha.net]
Babies born with OI type III possess a very bad prognosis. These patients sustain severe disability due to multiple fractures and bone deformities. [hindawi.com]
The management and prognosis of OI are discussed separately. (See "Osteogenesis imperfecta: Management and prognosis" .) EPIDEMIOLOGY The estimated incidence of OI is approximately 1 per 20,000 births [ 1 ]. [uptodate.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]
This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. [ncbi.nlm.nih.gov]
Etiology
Etiology In approximately 90% of cases, OI is caused by monoallelic variants in the COL1A1 and COL1A2 genes (17q21.33 and 7q21.3) encoding the alpha1 and alpha2 chains of type 1 collagen. These variants can cause types I-IV of OI. [orpha.net]
Etiology of Osteogenesis Imperfecta Osteogenesis Imperfecta is an inherited disorder that runs in the family. Spontaneous mutations can also occur at the time of conception. [lecturio.com]
Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. [ghr.nlm.nih.gov]
With regards to an etiological diagnosis, collagen analysis and genetic testing is advantageous, but not always necessary. [spandidos-publications.com]
Epidemiology
Summary Epidemiology Prevalence is estimated at between 1/10,000 and 1/20,000. Clinical description Age at diagnosis depends on the severity of the disease. Five clinically distinct types of osteogenesis imperfecta (OI) have been identified. [orpha.net]
EPIDEMIOLOGY The estimated incidence of OI is approximately 1 per 20,000 births [ 1 ]. This qualifies it as an orphan disease, which is defined in the United States as a disease affecting 200,000 patients or less. [uptodate.com]
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
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]
Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project. [physio-pedia.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]
The pathophysiology for OI type I is characterized by mutations in the genes for proα1 chains on COL1A1 on chromosome 17 or for proα2 chains on COL1A2 on chromosome 7 [4]. [journalimplantdent.springeropen.com]
Prevention
To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible. [physio-pedia.com]
Prevention of vitamin D and calcium deficiency is essential throughout life. [orpha.net]
His research in musculoskeletal biology covers topics such as glucocorticoid signalling in bone and its effects on bone and systemic fuel metabolism and ageing; the biology of bone metastases; and the clinical efficacy of secondary fracture prevention [books.google.com]
This is done to strengthen them and to correct and prevent deformities. This surgery is usually only performed on children when OI is severe enough to prevent walking. [clevelandclinic.org]
Rodding is also done to stabilize long bones and to prevent fractures. [lecturio.com]