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]

• 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]

• 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]

• 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]

Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]

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 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 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]

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]

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]

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]