Download e-book for iPad: Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn

By David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 146159068X

ISBN-13: 9781461590682

ISBN-10: 1461590701

ISBN-13: 9781461590705

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There are high myopic astigmatism, chorioretinal pigmentary changes, and myopic crescents at the discs. Spontaneous total retinal detachment leading to blindness is a common sequela of the myopia and may occur in the first decade of life. The skeletal changes are quite variable but resemble a mild spondyloepiphyseal dysplasia. Bony enlargement of certain joints, especially the ankles, knees, elbows, and wrists, may be noticeable at birth. Joint pain and stiffness often begin in early childhood and severe debilitating arthropathy may be present by the third or fourth decade.

At the growth plate, several distinct abnormalities were observed. The center of the growth plate was completely replaced by a broad zone of fibrous tissue abutting directly on resting cartilage. Bony spicules, extending into the metaphysis, arose directly from this area of connective tissue, denoting fibrous ossification. Surrounding this fibrous zone and extending to the periphery of the growth plate, endochondral ossification was observed. However, the cartilaginous cell columns were not arranged in a linear fashion, but in semicircular arrays separated by densely staining matrix.

When they do ossify, they appear flat and irregular with deformed femoral necks and coxa vara. Dislocations and subluxation of the femoral heads are common after weight bearing. The acetabular fossae are widened, as are the olecranon and glenoid fossae. The proximal tibial epiphysis is relatively large and may be triangular in shape. There is progressive scoliosis, but the vertebrae are normal in height. Caudal narrowing of the spinal canal may be present, but in some cases the interpedicular distance remains constant or widens caudally.

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Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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