Osteogenesis Imperfecta
U.S. National Library of Medicine
"... easy place to start for patients with OI ..."

Osteogenesis Imperfecta Foundation
Osteogenesis Imperfecta Foundation
[Support Group]
Osteogenesis imperfecta is a genetic disorder characterized by bones that break easily--often from little or no apparent cause ... The OI Foundation invites you to browse our web site to learn more about this disorder ...

Osteogenesis Imperfecta Congenita; OIC
[for Professionals mainly]
Osteogenesis Imperfecta Congenita, Neonatal Lethal Form; Osteogenesis Imperfecta, Type II; OI, Type II; Vrolik Type of Osteogenesis Imperfecta
Gene Map Locus: 17q21.31-q22, 7q22.1
Smars et al. (1961), McKusick et al. (1962), Awwaad and Reda (1960) and others have described families with 2 or more sibs thought to have OIC but with ostensibly normal parents. Such is probably to be expected of a dominant trait with wide expressivity and does not require a recessive explanation. Hanhart (1951), however, described an inbred kindred with affected members in 5 sibships. Here germinal mosaicism is not a satisfactory explanation. In all such studies, care must be taken not to confuse hypophosphatasia for osteogenesis imperfecta ... Young and Harper (1980) concluded that autosomal recessive inheritance is unlikely to apply to most cases of OIC, including the 'thick boned' variety ... Morphologically there appear to be two forms of OI congenita, a thin-boned and a broad-boned type ... Sillence et al. (1984) reviewed 48 cases of the perinatal lethal form of OI (OI type II) and subclassified them into 3 categories on the basis of radiologic features: group A (38 cases)--short, broad, 'crumpled' long bones, angulation of tibias and continuously beaded ribs; group B (6 cases)--short, broad, crumpled femurs, angulation of tibias but normal ribs or ribs with incomplete beading and group C (4 cases)--long, thin, inadequately modeled long bones with multiple fractures and thin beaded ribs. Information for segregation analysis was available on 33 families ... From molecular genetic studies of 39 cases from a series totaling 65 (40M; 25F), Tsipouras et al. (1985) concluded that most cases of OI II are the result of new dominant mutation ...

Osteogenesis Imperfecta, Type I
[for Professionals mainly]
There are 4 types of osteogenesis imperfecta: a dominant form with blue sclerae, type I (166200); a dominant form with normal sclerae and often with dentinogenesis imperfecta, type IV (166220); a perinatally lethal OI syndrome, type II (166210, 259400); and a progressively deforming form with normal sclerae, type III (259420) (Sillence et al., 1979) ... probably will never correctly predict the evolution of the disorder in every affected individual, because of the still unexplained variability of expression seen in many families (Byers, 1993) ... Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized by bone fragility and blue sclerae, resulting from mutations in the COL1A1 gene (120150) on chromosome 17 or in the COL1A2 gene (120160) on chromosome 7 (Sykes et al., 1990), that lead to reduced amounts of normal collagen I (Wenstrup et al., 1990) ... characterized chiefly by multiple bone fractures resulting from minimal trauma ... blue sclerae ... throughout life, normal teeth, and normal or near-normal stature. Fractures are rare in the neonatal period; fracture tendency is constant from childhood to puberty, decreases thereafter, and often increases following menopause in women and after the sixth decade in men. Conductive or mixed hearing loss occurs in about 50% of families, beginning in the late teens and leading, gradually, to profound deafness, tinnitus, and vertigo by the end of the fourth to fifth decade ... thin, easily bruised skin, joint hypermobility, kyphoscoliosis, hernias, arcus senilis ... nonprogressive aortic root dilatation ... Bone morphology is generally normal at birth ... Penetrance of blue sclerae is 100 percent, while penetrance of hearing loss is clearly age-dependent ... considerable interfamilial and intrafamilial variability in the number of fractures and degree of disability ...

Dentinogenesis Imperfecta 1; DGI1
[for Professionals mainly]
Opalescent Dentin; Dentinogenesis Imperfecta without Osteogenesis Imperfecta; Opalescent Teeth without Osteogenesis Imperfecta; Dentinogenesis Imperfecta, Shields Type II; DGI-II; Cardepont Teeth
Gene Map Locus: 4q21.3
Dentinogenesis imperfecta is an entity clearly distinct from osteogenesis imperfecta with opalescent teeth, and affects only the teeth. There is no increased frequency of bone fractures in this disorder. The frequency may be 1 in 6000 to 8000 children ... preferred the term opalescent dentin for this condition as an isolated trait, reserving dentinogenesis imperfecta for the trait when it is combined with osteogenesis imperfecta ...

Osteogenesis Imperfecta with Opalescent Teeth
[for Professionals mainly]
Osteogenesis Imperfecta, Type I, with Dentinogenesis Imperfecta; OI Type IA
Levin et al. (1980) concluded that dominant type I OI separates clearly into families in which affected persons have opalescent teeth and those in which dentinogenesis imperfecta (DGI) is absent ...

Dentinogenesis Imperfecta, Progressively Deforming, with Normal Sclerae
[for Professionals mainly]
Autosomal dominant; Autosomal recessive ... Short limb dwarfism recognizable at birth; Adult height 92-108 cm ... Triangular facies Frontal bossing; Micrognathia; Hearing loss; Blue sclerae at birth becoming normal with age; Dentinogenesis imperfecta (both primary and secondary teeth) ... Pulmonary hypertension ... Thin gracile ribs ... Severe, generalized osteoporosis; Multiple fractures present at birth; Wormian bones; Large anterior fontanelle; Undermineralized calvarium; Scoliosis; Kyphosis; Codfish vertebrae; Protrusio acetabuli; Long bone deformity evident at birth or in the first 2 years of life; Bowing of limbs due to multiple fractures; Thin gracile long bones ...

Osteogenesis Imperfecta, Type IV; OI4
[for Professionals mainly]
Autosomal dominant ... Short stature, often below 5th percentile ... Hearing loss; Otosclerosis; Normal-greyish sclerae; Dentinogenesis imperfecta ... Mild-moderate skeletal deformity; Varying degree of multiple fractures; Wormian bones; Scoliosis; Kyphosis; Biconcave flattened vertebrae; Femoral bowing present at birth, straightening with time; Bowed limbs due to multiple fractures ... Often identified in newborn period; Fractures can occur in utero, during labor and delivery, or in newborn period; Fractures occur in first few months, then decrease in frequency and then occur with ambulation; Fractures decrease after puberty but increase after menopause ... Caused by mutations in the collagen I, alpha-1 gene (COL1A1, {120150.0003}) ... Caused by mutations in the collagen I, alpha-2 gene (COL1A2, {120160.0004}) ...

Children's Brittle Bone Foundation
[Support Group]
The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public ...

National Osteoporosis Foundation
[Support Group]

Emergency Department Management of Osteogenesis Imperfecta
Osteogenesis Imperfecta Foundation
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue. The hallmark of OI is bones that fracture easily with little or no apparent trauma. Blue sclera; short stature; hearing loss; skeletal deformity; brittle, discolored teeth; and respiratory problems may also occur. OI ranges widely in severity. A person with mild OI may have just a few fractures in his or her lifetime, exhibit few other features of OI, and have normal stature and mobility. Those with more severe OI may have dozens or hundreds of fractures, as well as short stature, skeletal deformities, and limited mobility. Because of frequent fractures, children with OI are sometimes incorrectly assumed to be victims of child abuse or non-accidental trauma.

OI Issues: Child Abuse
Osteogenesis Imperfecta Foundation
Osteogenesis imperfecta (OI) is characterized by bones that break easily. A minor accident may result in a fracture ... Child abuse is also characterized by broken bones ... False accusations of child abuse may occur in families with children who have milder forms of OI and/or in whom OI has not previously been diagnosed. Types of fractures that are typically observed in both child abuse and OI include: fractures in multiple stages of healing; rib fractures; spiral fractures; fractures for which there is no adequate explanation of trauma ... when false accusations of child abuse occur, families become victimized ... Each state has its own policy for dealing with child abuse cases. We strongly suggest that you secure the advice and, if possible, the services of a family law attorney as soon as charges of child abuse are brought ...

Child Abuse Allegations (vs. Osteogenesis Imperfecta)
Osteogenesis Imperfecta Foundation
A child is brought into the emergency room with a fractured leg. The parents are unable to explain how the leg fractured. X-rays reveal several other fractures in various stages of healing. The parents say they did not know about these fractures, and cannot explain what might have caused them. Hospital personnel call child welfare services to report a suspected case of child abuse. The child is taken away from the parents and placed in foster care

OI Issues: Pregnancy
Osteogenesis Imperfecta Foundation
A woman with osteogenesis imperfecta (OI) who becomes pregnant may experience an uneventful pregnancy or one that is laden with difficulties. Similarly, a developing fetus that is found to have OI may be born with very few complications, or it may not survive beyond a few hours ... most obstetricians and other medical care providers will not have had experience in managing such cases. There is little data available ... However, this fact sheet will attempt to address some of the specific problems that have been suggested to be associated with OI during pregnancy ... Women with OI can expect to begin menstruating at the same age as women who do not have OI ... There may be heavy bleeding in women with a history of easy bruising or bleeding tendencies ... there is no evidence to suggest that fertility or miscarriage rates are influenced by OI ... Women with OI Types I and IV may experience loose joints, reduced mobility, increased bone pain and dental problems during pregnancy ... Individuals with the more severe and debilitating forms of OI who have short stature and curvature of the spine may be at increased risk for both medical and obstetrical complications. If the level of curvature of the spine is great, the likelihood of heart and lung difficulties is increased. It is possible that these women will require early hospitalization due to increasing breathlessness ... trauma during pregnancy or obstetrical manipulation at the time of vaginal delivery may result in fractures ... elective caesarean section may be the delivery method of choice for most women with OI ... Bleeding disorders in OI are usually not a problem ... In the absence of clear indication of who may be at greatest risk for hyperthermia (an increase in body temperature during anesthesia), some physicians might consider spinal or epidural anesthesia to be the safest approach ... With regard to mode of delivery, it has been suggested that caesarean section would be less traumatic than vaginal delivery when fractures of the long bones of a fetus with Types I, III, or IV OI are identified. However, there are no data to confirm that this assumption is correct ...

OI Issues: Rodding Surgery
Osteogenesis Imperfecta Foundation
Rodding surgery is the placement of a metallic device called a rod or nail into the internal cavity (medullary canal) of a long bone. It is major surgery and the pros and cons should be carefully evaluated. Rodding is most often used to treat children with moderate to severe osteogenesis imperfecta. In teens and adults it is usually reserved for difficult fractures that are not healing.

OI Issues: Genetics
Osteogenesis Imperfecta Foundation
Osteogenesis imperfecta (OI) is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen (the major protein in bone and skin) ... Results of these studies show that the great majority of people with OI, even those who are the only affected person in a family, have dominantly inherited forms of the disorder ...

Fast Facts on Osteogenesis Imperfecta
Osteogenesis Imperfecta Foundation
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder ... OI is caused by a genetic defect that affects the body's production of collagen ... It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations ... The characteristic features of OI vary greatly from person to person—even among people with the same type of OI, and even within the same family—and not all characteristics are evident in each case ... Type I: Most common and mildest type of OI; Bones predisposed to fracture. Most fractures occur before puberty; Normal or near-normal stature; Loose joints and low muscle tone; Sclera (whites of the eyes) usually have a blue, purple, or gray tint; Triangular face; Tendency toward spinal curvature; Bone deformity absent or minimal; Brittle teeth possible; Hearing loss possible, often beginning in early 20s or 30s; Collagen structure is normal, but the amount is less than normal ... Type II: Most severe form; Frequently lethal at or shortly after birth, often due to respiratory problems. People with Type II have lived into young adulthood; Numerous fractures and severe bone deformity ... Type III: Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth; Short stature; Sclera have a blue, purple, or gray tint; Loose joints and poor muscle development in arms and legs; Barrel-shaped rib cage; Triangular face; Spinal curvature; Brittle teeth possible; Hearing loss possible ... Type IV: Between Type I and Type III in severity ...

Shriners Hospitals Directory (Resource for patients with OI)
Shriners Hospitals

L'Association de l'Osteogenese Imparfaite (AOI)
[Support Group] [French]
L'Association de l'Osteogenese Imparfaite (AOI) est une association qui regroupe les malades, les familles ainsi que tous ceux qui acceptent de prendre en charge cette affection genetique, connue sous le nom de Maladie des Os de Verre ...

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Last Updated: 2023/08/03

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