Osteogenesis Imperfecta (Subscribe)  

Background Child abuse and neglect (CAN) is a serious problem that has major implications for the welfare of the child involved. Unexplained fractures are of particular concern to the orthopaedic surgeon, who must often consider alternative diagnoses to CAN.
Questions/purposes We therefore (1) determined which bone diseases most commonly mimic CAN; (2) what...

Early cyclical neridronate treatment has positive effects on growth and fracture rate in infants with severe osteogenesis imperfecta (OI), according to researchers. In a study published in the August issue of the Journal of Pediatrics, Italian researchers prospectively assessed the efficacy of bisphosphonate treatment in infants with severe OI. Included in...

Search String "osteogenesis imperfecta" orthopaedic OR orthopedic

Osteogenesis Imperfecta (OI) is a group of inherited disorders in which the most common feature is bones that break easily. OI results from an alteration either in the chemical makeup or production of collagen. Collagen is the protein "glue" that holds the body's tissues together and gives strength to bones. It... Expert

Osteogenesis Imperfecta is caused by a mutation in the gene for collagen. The disease is inherited as an autosomal dominant trait, which means persons with one mutation will have the disease and each of their children will have a 50% chance of getting the disease. In about one of five...

"brittle bone disease": abnormalities of collagen/collagen production
Type I
autosomal dominant
age at presentation: 2-6 years
Type II (congenital lethal OI)
autosomal recessive...

Osteogenesis Imperfecta Congenita OIC Alternative titles; OSTEOGENESIS IMPERFECTA CONGENITA, NEONATAL LETHAL FORM OSTEOGENESIS IMPERFECTA, TYPE II OI, TYPE II VROLIK TYPE OF OSTEOGENESIS IMPERFECTA

Osteogenesis Imperfecta: "Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV." Source: Medical Subject Headings, 2007_2006_08_08 "autosomal dominant collagen disease resulting from...

Osteogenesis imperfecta (OI) is disorder with congenital bone fragility, caused by mutations in the genes that codify for type I procollagen (ie, COL1A1 and COL1A2).
The following 4 types of OI have been reported:
* Type I - Mild forms
* Type II - Extremely severe
* Type III - Severe
* Type IV -...

Background: The earliest known case of osteogenesis imperfecta is in a partially mummified infant's skeleton from ancient Egypt now housed in the British Museum in London. In 1835, Lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition. Other names...

Background: Osteogenesis imperfecta (OI) is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and often deformed. Several distinct subtypes have been identified. All of them lead to variable degrees of micromelic (short-limbed) dwarfism. Depending on severity, the bone fragility may lead to...

osteogenesis imperfecta (OI) is an inherited disorder of connective tissue (specifically, faulty collagen formation). Gene probes have elucidated mutations in genes that regulate collagen formation, resulting in defective conversion of reticulum fibers to adult collagen fibers. There are four clinical criteria — blue sclerae, fragile bones, otosclerosis, and poor dentition...

osteogenesis imperfecta is an inherited (autosomal dominant) disorder of collagen formation. Its incidence is about 1 in 30,000 with about 20,000 to 50,000 estimated cases in the United States. It is characterized by loss of bone density, bowing and fractures of bones. Abnormal maturation of the collagen molecule results in...

Synonyms of Osteogenesis Imperfecta Brittle Bone Disease Ekman-Lobstein Disease Lobstein Disease (Type I) OI Vrolik Disease (Type II) Disorder Subdivisions Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type IV General Discussion Osteogenesis imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized...

Definition
Heterogeneous group of inheritable diseases
Characterized by an abnormality of Type 1 collagen
Manifested by bone fragility, deformity, & propensity to fracture
Characterised by
Bone fragility
Deformity
Propensity to fracture