Radiography
Findings
In cases of suspected osteogenesis imperfecta (OI), postnatal radiographs should include views of the long bones, skull, chest, pelvis, and thoracolumbar spine.
Radiographic features are related to the type of OI and the severity of disease. Some findings, however, may be seen in all subtypes.
General radiographic features of OI
The radiologic sine qua non of OI is generalized osteoporosis of both the axial and appendicular skeleton.
Milder forms of OI result in thin, overtubulated (gracile) bones with thin cortices and relatively few fractures (see Images 1-2). The short tubular bones are also affected, though they are less frequently fractured.
More severe forms of OI, such as types II and III, feature thickened, shortened long bones with multiple fractures; these forms are often complicated by hyperplastic callus formation (see Image 3). The callus is most often found around the femur and is often large, appearing as a dense, irregular mass arising from the cortex of bone. This callus is associated with thickened periosteum. Its presence causes other differential diagnostic considerations, including the following: osteosarcoma, myositis ossificans, chronic osteomyelitis, and osteochondroma.
In milder forms of disease, radiographs of the skull may reveal normal skull development. With increasing disease severity, the skull demonstrates poor mineralization and multiple wormian, or intrasutural, bones (see Images 4-5).
The chest may be small. Multiple rib fractures are often found; these can cause the ribs to become broad and deformed.
Spinal abnormalities in all subtypes include platyspondyly and scoliosis (see Type III findings, below).
Recent advances in the treatment of OI with bisphosphonates have resulted in specific imaging findings. Cyclical pamidronate treatment produces sclerotic growth recovery lines in the long bones (see Image 1 and Image 6). The amount of bone growth between doses of pamidronate may be measured by the distance between these growth lines.
Type-specific radiographic features of OI
Some radiographic findings are more specific to certain subtypes of OI than others.
Type II
Type II OI is further categorized into 3 subtypes on the basis of radiologic features of the long bones and ribs. In types IIA and IIB, the long bones are short and broad because of undermodeling; the bones are also crumpled. In type IIC, the long bones are thinner (cylindrical) and longer than in the other subtypes, though they are still undermodeled.
The ribs in type IIA are short and broad with continuous beading. In type IIB, beading is absent or minimal and discontinuous. In type IIC, the ribs are thin and beaded.
Type III
The following radiographic findings are specific to type III OI.
Scoliosis of the thoracolumbar spine: As many as 25% of patients with OI have scoliosis, and the association is even higher in patients with type III OI (see Image 7). Most have an S -shaped scoliosis.
Severe platyspondyly with vertebral compression fractures and codfish vertebrae are more common in this type than in other types (see Image 8).
Popcorn calcifications occur commonly in the metaphyseal-epiphyseal region of long bones, most commonly at the knee and ankle. This results from repeated microfractures at the growth plate.
Soft craniofacial bones with a large, thin calvarium cause triangular facies.
Type IV
Radiographic findings of this type are similar to the general findings and findings specific to type I OI.
One feature more commonly associated with type IV than other types is basilar invagination (impression), with or without brainstem compression. This may be detected on plain radiography of the skull or cervical spine. The McGregor line may be used to assess for this complication. This is defined as the straight line connecting the upper surface of the posterior edge of the hard palate to the most caudal point of the occipital curve. Projection of the tip of the odontoid process above the McGregor line suggests the presence of basilar invagination (see Images 9-10).
The presence of a large, thin cranium with platybasia and cranial settling may lead to the appearance of the Tam O'Shanter skull.
Degree of Confidence
Upon the detection of hallmark bone findings of osteogenesis imperfecta on plain radiographs, the diagnosis may be made with a high degree of confidence; confirmation with other imaging modalities is not needed.
Computed Tomography
Findings
Currently, the major role of CT is in adjunctive problem-solving. CT may be used to further assess for basilar impression (see Image 9 and MRI below), to evaluate the petrous bone for narrowing of the middle ear or otosclerosis, and to support bone mineral densitometry (BMD) (see Nuclear Medicine below).
Magnetic Resonance Imaging
Findings
The major role of MRI in osteogenesis imperfecta (OI) is in problem-solving. MRI is also used to image complications of OI, such as basilar impression. Although cervical spinal radiography and CT may demonstrate this abnormality well, MRI has the advantage of detecting associated compression of the spinal cord (see Image 10).
Basilar impression is frequently associated with type IV OI. In particular, in type IVB OI, the incidence of neurologic symptoms is increased.
Other associated conditions that may be imaged better with MRI than with plain radiography include syringohydromyelia and communicating hydrocephalus, especially if these conditions develop after fontanelle closure.
Ultrasonography
Findings
Osteogenesis imperfecta (OI) is one of the most common skeletal dysplasias detected on prenatal ultrasonography. Most cases involve type II OI and are found incidentally.
The diagnosis of OI may be made reliably by week 17 of gestation. The diagnosis may be made by detecting morphologic abnormalities on sonograms or by analyzing collagen synthesized by chorionic villus cells after sonography-guided chorionic villus sampling.
Sonographic findings of OI during the second trimester scanning include decreased echoes from the calvarium with supervisualized (too easily seen) intracranial structures; bowing and angulation of the long bones, implying platic deformities and fractures; decreased length of the long bones; and multiple rib fractures.17
Nuclear Imaging
Findings
Bone mineral densitometry (BMD) results may confirm the severity of osteoporosis in patients with osteogenesis imperfecta (OI); it may also confirm the presence of demineralization in mild cases of type I or type IV OI.
Currently accepted BMD measurement techniques include the following: (1) cortical radial BMD measured by use of single-photon absorptiometry (SPA); (2) BMD of the lumbar spine (in children older than 1 y) and femoral neck (in children older than 6 y), in which BMD is obtained by use of dual-energy x-ray absorptiometry (DXA); and (3) lumbar spinal BMD measured by means of CT in children older than 4 years.
Degree of Confidence
There are only a few reported cases in which bone mineral densitometry measurements were made in young children with osteogenesis imperfecta; as such, the reliability of these measurements is unknown.
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 Imaging: Osteogenesis Imperfecta |
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Further Reading
Keywords
osteogenesis imperfecta, OI, collagen disease, bone disease, inborn genetic disease, Lobstein disease, Lobstein's disease, Ekman syndrome, Ekman's syndrome, osteochondrodysplasia, osteopsathyrosis, van der Hoeve syndrome, an der Hoeve's syndrome, Bruck syndrome, Bruck's syndrome, temporary brittle-bone disease, weak bones, COL1A1, COL1A2, dentinogenesis imperfecta
