The list of signs and symptoms mentioned in various sources for Osteogenesis imperfecta includes the 15 symptoms listed below:
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The list of other diseases or medical conditions that may be on the differential diagnosis list of alternative diagnoses for Osteogenesis imperfecta includes:
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Clinical severity varies, depending on the type. In type I, fractures characteristically occur from minimal trauma. The sclerae are a deep blue-black color, and the teeth may be yellow or even grayish blue from opalescent dentin. Patients with dental abnormalities are shorter and have more fractures at birth, more frequent fractures, and more severe skeletal deformities than type I patients with normal teeth.
Bowing of the lower limbs is common in this type, as is kyphosis in adults. Approximately 40% of all adults with type I have severely impaired hearing, and virtually all adults have some degree of hearing impairment by age 50. The number of fractures may spontaneously decrease in adolescence.
Type II is characterized by intrauterine fractures due to extreme bone fragility, leading to intrauterine or early infant death. Death usually results from complications of bone fragility, heart failure, pulmonary hypertension, or respiratory failure. Therapeutic intervention doesn't usually increase survival.
Type III is generally nonlethal. Fractures are usually present at birth and occur frequently in childhood; they typically lead to progressive skeletal deformity and, eventually, impaired mobility. Patients have a poor growth rate; most fall below the third percentile in height for their age. Their sclerae are usually normal or light blue, and their teeth aren't usually opalescent.
Type IV is characterized by osteoporosis, which leads to increased bone fragility. The sclerae may be light blue at birth but appear normal in adolescents and adults. Bowed limbs may be present at birth, but only 25% of patients have fractures at birth. The number of fractures may decrease spontaneously at puberty, but the majority of patients are short. A few have a skull deformity.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Source: The 5-Minute Pediatric Consult, 2008
The appearance of people with OI varies considerably. Individuals may also have a blue or gray tint to the sclera (whites of the eyes), thin skin, growth deficiencies, and fragile teeth. They may develop scoliosis, respiratory problems, and hearing loss. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)
When considering symptoms of Osteogenesis imperfecta, it is also important to consider Osteogenesis imperfecta as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Osteogenesis imperfecta may cause:
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
The symptom information on this page attempts to provide a list of some possible signs and symptoms of Osteogenesis imperfecta. This signs and symptoms information for Osteogenesis imperfecta has been gathered from various sources, may not be fully accurate, and may not be the full list of Osteogenesis imperfecta signs or Osteogenesis imperfecta symptoms. Furthermore, signs and symptoms of Osteogenesis imperfecta may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Osteogenesis imperfecta symptoms.
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