Term
| narrowing of the spinal canal, basilar impression, symmetrical shortening of the long bones, pelvis is in the shape of a champagne glass, trident hands and the amount of cartilage is increased which will cause the space between the vertebrae to be of equal height compared to the vertebrae |
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Definition
| radiographic findings of Achondroplasia |
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Term
| elongation of the extremities without an increase in width, acetabular protrusion, tall vertebrae, scoliosis, and kyphoscoliosis |
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Definition
| key radiographic findings for Marfan’s syndrome |
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Term
| In early infancy there is a delayed or absent ossification of the calvaria, wormian bones are formed in the sutures of the skull, widening of the sagittal and coronal sutures, temporal squama and occipital bone are frequently thickened, platybasia may be present, underdeveloped facial bones, clavicles are absent completely of partially, bones of the pelvis are small and underdeveloped, vertebrae show delayed mineralization, biconvex vertebral bodies, SBO, increased incidence of spondylolysis in lumbar spine, hemivertebrae, in the hands distal phalanges are hypoplastic and often pointed |
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Definition
| radiographic features of Cleidocranial Dysplasia |
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Term
| The ilia are shortened caudally and flattened, and have small sciatic notches. The acetabula are horizontally oriented with excessive thickening of the Y cartilage. The pelvis looks like a champagne glass |
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Definition
| radiographic features of the pelvis as demonstrated in Achondroplasia |
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Term
| Lumbar spine stenosis that produces nerve root compression or cauda equina, basilar impression and stenosis of the foramen magnum that compress the spinal cord or the brainstem (this can produce sudden death due to apnea, or syringoyelia and communicating hydrocephalus |
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Definition
| medicolegal ramifications of Achondroplasia |
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Term
| Ischemic necrosis of the femoral head, stenosising of the foramen magnum (often compress the optic and acoustic nerves can lead to blindness and deafness), pathologic fractures may occur secondary to bone fragmentation, anemia, recurrent infections, and leukemia can also be complications |
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Definition
| medicolegal ramifications of Osteopetrosis |
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Term
| Congenital cardiac abnormalities (can also have aortic dissection or pneumothrax), slipped capital femoral epiphysis, laxity of the transverse ligament leading to instability of the upper cervical spine. |
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Definition
| medicolegal ramifications of Marfan's Syndrome |
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Term
| overall bone fragility, ligamentous laxity produces joint hypermobility and instability, basilar impression (leading to hydrocephalus or cerebellar compression), kyphoscoliosis ( can result in respiratroy failure an d paraplegia). |
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Definition
| medicolegal ramifications of Oesteogenesis Imperfecta |
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Term
| four major clinical criteria in determining _____________: abnormal fragility of the skeleton, blue sclerae, abnormal dentition, and premature otosclerosis |
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Definition
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Definition
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Definition
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Term
| POSTERIOR SCALLOPING of vertebral bodies |
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Definition
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Term
| BONE WITHIN BONE APPEARANCE |
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Definition
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Term
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Definition
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Term
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Definition
| Cleidocranial Dysplasia & Achondroplasia |
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Term
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Definition
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Definition
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Definition
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Definition
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Term
| The long bones are markedly shorter. The cranium is large brachycephaly, with a prominent forehead and depressed nasal bridge. The foramen magnum is small. The length of the spinal column is relatively normal. The abdomen is protuberant and the buttocks are prominent. The lumbar spine is hyperlordotic. The posterior tilt of the pelvis and posterior angulation of the hip joint create a rolling gait. Elbow deformities that limit extension and supination. Flexion contractures of the hips and genu varum. Trident hands due to widening of the third and fourth digits with an inability to approximate them in finger extension. All their fingers are the same length. The pedicles in the spine are short and thick, with decreased interpedicular distance in the lumbar spine. There is posterior scalloping of the vertebral bodies |
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Definition
| classic phenotype of Achondroplasia |
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