Podium No: 331 Thursday, February 15, 2007 04:00 PM - 04:06 PM Location: San Diego Convention Center Room 6DE
Mininder S Kocher, MD, MPH Boston MA (n) Laura Dichtel, AB Boston MA (n) Ingrid Holm, MD, MPH (n) Moderator(s): Lori A Karol, MD Dallas TX (N) Susan A Scherl, MD Omaha NE (c-Lippincott, c-UptoDate)
The consequences of misdiagnosis of OI as child abuse are devastating to the family. OI should be considered in all cases of suspected child abuse

Podium No: 280 Thursday, February 15, 2007 02:42 PM - 02:48 PM Location: San Diego Convention Center Room 6DE
James J McCarthy, MD Philadelphia PA (b-EBI) John P Dormans, MD Philadelphia PA (b-Medtronic) Ross Chafez, MPH, DPT (n) Jared Friedman, BA (n) Timothy Roberts, BA (n) Brian Newton, BS (n) Randal R Betz, MD Ocean City NJ (e-DuPuy, Medtronic, Synthes, Osteotech, Nuvasive, Spinevision) Moderator(s): Dennis Paul Grogan, MD Tampa FL (*) Gregory A Mencio, MD Nashville TN (*)
Scoliosis is common in children with OI, but surgery is not commonly undertaken. When performed, correction can be achieved but with a high risk of complications.

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 the study were 10 children with OI type III. Of these, five (group A) started treatment (2 mg/kg neridronate given intravenously for 2 consecutive days, every 3 months) at a mean age of 37 days and five (group B) started treatment after 6 months (mean age of 220 days). Ten untreated children matched for sex, age, and clinical severity of OI, served as an historical control group (group C). [p 174, para 2,3 and p 175, col 1, para 1,2,3]

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 is the major protein in bone. There are several types of collagen, and one of the most important is type I collagen. Expert

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 defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation." Source: CRISP Thesaurus, 2006 Osteogenesis imperfecta aka/or Brittle bone disease may cause or feature Miscellaneous syndromes Pathological fracture Symptoms and Signs Blue sclerae Conductive hearing loss Disproportionate short stature Facies abnormality Genu varum Hypotonia (skeletal muscle) Joint hypermobility Kyphosis Scoliosis Short stature Tooth abnormalities Congenital conditions Collagen disorder, hereditary Cardiac and vascular conditions Mitral valve incompetence

Osteogenesis imperfecta (OI) is disorder with congenital bone fragility, caused by mutations in the genes that codify for type I

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 for osteogenesis imperfecta are Lobstein disease, brittle-bone disease, blue-sclera syndrome, and fragile-bone disease. Osteogenesis imperfecta is one of the most common skeletal dysplasias. It is a generalized disease of connective tissue that may manifest itself with one or more of the following findings: blue sclerae, triangular facies, macrocephaly, hearing loss, defective dentition, barrel chest, scoliosis, limb deformities, fractures, joint laxity, and growth retardation. Additional features, such as constipation and sweating, may also occur. A multidisciplinary approach is required to manage the disease. Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Bibliography

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 perinatal death or cause severe deformities into adulthood. A wide array of clinical manifestations of the disease may be seen. These partly depend on the genetic subtype of OI.

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Summary Disease characteristics. Osteogenesis imperfecta (OI) is a group of disorders characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. Before the molecular basis of OI was understood, OI was classified into four types on the basis of mode of inheritance, clinical presentation, and radiographic findings. With detailed radiographic and bone morphologic studies and molecular genetic analyses, the classification has expanded to seven types and it is likely that more will emerge. This classification into types of OI is helpful in providing information about prognosis and management, but it should be remembered that many of the types of OI represent an artificial construct on a broad clinical entity. Authors: , MD Melanie G Pepin, MS, CGC Peter H Byers, MD

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 — the presence of two confirms the diagnosis.

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 defective, weak bony matrix. Four types are recognized and referred to as types I through IV. Type I is the most common and least severe type. In type I life expectancy is normal.. Fractures are common and tend to occur more in the lower extremities. Fractures are more common before puberty. Exuberant callous may occur with fracture healing. The fractures tend to cause bowing of the bones and mildly short stature. The underlying molecular defect in type I results in normal collagen molecules in decreased amount accounting for generalized osteopenia. In type II OI collagen is improperly formed. Life expectancy is short – often lethal at or shortly after birth. Type III is rare. In type III collagen is improperly formed. fractures are very common and may occur at and before birth. All patients with type III have extreme short stature and almost all have scoliosis and vertebral compression. Type IV is least common and is intermediate between type I and III in severity. Non-osseous manifestations of OI include laxity of the joints, deafness and brittle teeth.

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 by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complications. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits. .