Osteogenesis imperfecta

Short humerus arm bone and short femur upper leg bone Coxa vera is common the acutely angled femur head affects the hip socket. 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 bonesoften without apparent cause.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include: Progressive malformation of various bones may result in short stature, sideways and front-to-back curvature of the spine scoliosis and kyphosisand malformation of the area where the bone in the back of the skull occipital bone and the top of the spine meet basilar impression.

OI may range from a mild disorder with few symptoms to a severe, debilitating disorder. Differentiating them can be difficult, especially when no other characteristic features of OI are present. There are many different types of drugs that have been developed to treat pain.

Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with OI. Comparisons may be useful for a differential diagnosis: In most cases, the bluish tinge fades during the first year of life.

Plastic braces are replacing plaster casts as protective devices because they permit greater freedom of movement and can be used in water. Chromosomes are found in the nucleus of all body cells. These may be cancers or other diseases.

Osteogenesis imperfecta

Prognosis The prognosis for a person with OI varies greatly depending on the number and severity of symptoms. The ribs and long bones of the legs of affected infants are often malformed. Treatment is aimed at preventing symptoms, maintaining individual mobility, and strengthening bone and muscle.

Extreme skeletal under mineralization. Treatment may include care of broken bones, pain medication, physical therapybraces or wheelchairs, and surgery. Cole-Carpenter syndrome is an extremely rare disorder characterized by extremely fragile bones and multiple fractures like those seen in OI.

Repeated fractures may result in slight malformation of the bones of the arms and legs e. Osteopetrosis may be inherited as an autosomal recessive or dominant trait.

Treatment[ edit ] There is no cure.

Osteogenesis Imperfecta

Diagnosis A diagnosis of osteogenesis Osteogenesis imperfecta is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms and a variety of specialized tests.Jan 14,  · Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the billsimas.com type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis.

Feb 16,  · Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Fast Facts on Osteogenesis Imperfecta.

Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or. Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily.

It is known as brittle bone billsimas.commes the bones break for no known reason. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing billsimas.com 20, to 50, people in the United States have OI.

In people with osteogenesis imperfecta, one of the genes that tells the body how to make a specific protein does not function. This protein (type I collagen) is a major component of the connective tissues in bones. Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones.

The term " osteogenesis imperfecta " means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause.

Osteogenesis imperfecta
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