He is Executive Advisory Editor of Bone Research (2013-present). [books.google.com]

In addition to this some key clinical observations may be present such as: Blue Sclerae (whites of the eyes) – this is a characteristic feature of OI Type 1 but is not present in all forms of OI. [oiaustralia.org.au]

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]

The mild form results in fractures, whereas the severe form presents more like a syndrome constituting a pattern of disorders. [lecturio.com]

PRESENTATION OF OSTEOGENESIS IMPERFECTA The presentation of disease varies widely across patient populations. It often varies in severity as you move from type I (mild) to type IV (severe). [gwumc.edu]

• 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]

  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]

  Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). [orpha.net]

  Silence type I to IV Type-I: 70% of total case, bone density reduced 60% of normal, mild short stature & variable bone fragility. [de.slideshare.net]

• Disability

  A qualified disability attorney will be familiar with the entire process of obtaining disability benefits for you and your family so that your claim will not be denied or delayed due to incomplete or insufficient documentation. [disabilitybenefitscenter.org]

  Please enable JS and disable any ad blocker [pediatricsconsultantlive.com]

  […] to the different types of the disease, and to study the correlation between characteristics of impairment and disability. [thedoctorsdoctor.com]

• Developmental Delay

  Learning and developmental delays and brain anomalies have been observed in some patients. Disease Ontology: 11 An osteogenesis imperfecta that has material basis in mutation in the WNT1 gene on chromosome 12q13. [malacards.org]

  Learning and developmental delays and brain anomalies have been observed in some patients. [ncbi.nlm.nih.gov]

• Surgical Procedure

  Many children with OI undergo a surgical procedure known as rodding, in which metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. [oif.org]

  Once healing of the nonunion site occurs, the locking plate should be removed; however, Cho et al reported that plate removal was generally delayed until another surgical procedure was performed. [healio.com]

  Patients rarely walk, even after multiple surgical procedures and they have very short stature. Early death can occur from respiratory infections predisposed to by reduction in vital capacity associated with severe kyphoscoliosis. [patient.info]

  Rodding is a surgical procedure in which a metal rod is implanted within a bone (usually the long bones of the thigh and leg). This surgery is performed when bowing or repeated fractures of these bones has interfered with a child's ability to walk. [healthofchildren.com]

• Fatigue

  License: CC BY-SA 2.5 Bruises Blue color of sclera Breathing problems Bowing of legs Scoliosis or curved spine Early hearing loss and deafness Fatigue Fragile skin Weak muscles Loose joints Short stature In the mild form, fewer signs are present such [lecturio.com]

  Fatigue. Basilar Invagination a serious neurological problem is seen in some people with the more severe forms of OI. Skin, blood vessels and internal organs may be fragile. OI exhibits wide variation in appearance and severity. [oif.org]

  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]

  Fatigue, breathlessness and wheezing are frequent symptoms. Manifestations can include asthma, recurrent pneumonia, exercise intolerance, and sleep apnea. [healthjade.net]

• Normal Hearing

  Noise exposure was confirmed by 14 subjects with mixed hearing loss and three normal-hearing patients. [ojrd.biomedcentral.com]

  Type 4 – Autosomal Dominant, normal sclerae, moderate deformities, normal hearing There are more complex classification characteristics that have been added since the Silence classification system originally was published. [radiologypics.com]

  This male patient was the product of a second-cousin union and in addition to fractures had delay in tooth eruption, normal hearing, and white sclerae. [emedicine.medscape.com]

  The sclera of the eyes are white, teeth are normal and hearing loss has not been observed. Osteogenesis Imperfecta Type VII (CRTAP) Type VII OI is severe and affected individuals have clinical cases similar to type II. [rarediseases.org]

• Osteoporosis

  It shows severe osteoporosis of skeleton with fractures of upper extremities, crumpled femora, flared rib cage with narrow apex and multiple beads of callus on each rib. Reproduced from Marini J, Smith SM. Osteogenesis Imperfecta. [iofbonehealth.org]

  […] fibrous dysplasia, non-accidental injury (multiple fractures without osteoporosis), and osteoporosis due to medication, nutritional deficiency, metabolic disease, or leukemia. [orpha.net]

  He serves on the Board of Governors of the International Osteoporosis Foundation (1998-present) and on its Committee of Scientific Advisors (2001-present). He is Chair of the Endocrine Fellows Foundation. [books.google.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]

  However, just like there is an overlap between OI and osteoporosis, there is a question of how genetic variants contribute to osteoporosis. Individualized treatment of osteoporosis may be the next important step in therapeutic intervention. [ajmc.com]

• Platyspondyly

  [from OMIM] Show allHide all Abnormality of the eye Blue sclerae Abnormality of the musculoskeletal system Bowing of limbs due to multiple fractures Joint hypermobility Platyspondyly Recurrent fractures Scoliosis Thin ribs Abnormality of the nervous system [ncbi.nlm.nih.gov]

  […] recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Xv; Oi15 Intellectual disability Global developmental delay Short stature Microcephaly Scoliosis Cerebellar hypoplasia Autism Platyspondyly [mendelian.co]

  Associations congenital cataracts Plain radiograph This is the preferred initial examination. head, neck and spine basilar invagination wormian bones kyphoscoliosis vertebral compression fractures codfish vertebrae platyspondyly chest pectus excavatum [radiopaedia.org]

  In 1983, Maclean et al described an infant with broad, angulated femora and several minor skeletal abnormalities that included a narrow thorax, platyspondyly, and micrognathia. 7 An unusual feature of the proband's skeletal deformity was that the bowing [jmg.bmj.com]

  Fractures, normal stature, little or no deformity, blue sclerae, hearing loss COL1A1 dominant 50% reduction in type I collagen synthesis II Severe lethal in neonatal period; multiple fractures, undermineralized bones, beaded ribs, short/bowed long bones and platyspondyly [uwcpdx.org]

• Severe Short Stature

  Height: Individuals with type III OI have severe short stature by definition; individuals with type IV OI recruited to the study will have height less than the 3rd percentile for age. [clinicaltrials.gov]

  Type III : This type is associated with severe fracture tendency, severe short stature, and progressive deformity and disability. Phenotypically, there is a small degree of overlap with type II OI. [de.slideshare.net]

  Type III is severe and the main signs include severe short stature, a triangular face, severe scoliosis, grayish sclera, and DI. Type IV and 5 are moderate or severe forms. [orpha.net]

  […] sometimes severe Short stature Blue sclera (thought to be due to differential scattering of light because of differences in the connective tissue) tends to whiten with age Loose joints and poor muscle development Barrel-shaped rib cage Triangular face [en.wikibooks.org]

• Blue Sclera

  Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. [malacards.org]

  sclerae which remain intensely blue throughout life, in contrast to the sclerae in OI type III and OI type IV which may also be blue at birth and during infancy. [edoj.org.eg]

• Global Developmental Delay

  Learning and developmental delays and brain anomalies have been observed in some patients. [ncbi.nlm.nih.gov]

  Affiliated tissues include bone and brain, and related phenotypes are global developmental delay and joint hypermobility UniProtKB/Swiss-Prot: 73 An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low [malacards.org]

• Irritability

  For example, your baby may be fussy or irritable. Has signs of a cold or flu, like a fever or cough [hopkinsmedicine.org]

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

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]

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

Treatment of osteoclasts with LPS significantly increased levels of AEA. [medicalmarijuana.com]

Most patients (n=9) presented with insufficient levels of 25-hydroxycholecalciferol (<30ng/ml).Treatment From time of diagnosis all patients had initiated physiotherapy treatment, physical treatment and some had required orthopaedic surgery. [reumatologiaclinica.org]

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]

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]

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]

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 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]

Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. [ghr.nlm.nih.gov]

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]

However, these disorders, while clinically sharing some features of true OI, are better designated as separate conditions based on their unique molecular etiologies. Treatment Treatment Options: Avoidance of trauma is paramount. [disorders.eyes.arizona.edu]

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]

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]

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]

Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project. [physio-pedia.com]

This classification scheme is likely to change with additional research on pathophysiology of OI. [nature.com]

A multidisciplinary approach is required to manage the disease. [1, 2, 3] Pathophysiology In OI, pathologic changes are seen in all tissues of which type 1 collagen is an important constituent (eg, bone, ligament, dentin, and sclera). [emedicine.medscape.com]

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]

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]

To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible. [physio-pedia.com]

Treatments for preventing or correcting symptoms may include: Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. [hopkinsmedicine.org]