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

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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The radiographic features of achondrogenesis type I are diagnostic, with marked underossification of the lumbar vertebrae, sacrum, pubis, and ischium (Fig. 175,264,272,303 The vertebral bodies are often completely unossified or barely visible, with the lower dorsal and upper lumbar vertebrae least severely involved. There is an increase in the height of the intervertebral spaces, but the interpedicular distances are normal. The sacrum and pubic bones are not seen, and the ischium is at the most only faintly visible.

The feet are short, broad, and deformed, and held in a valgus position. Radiographic abnormalities are confined to the limbs, the trunk and skull being completely normal. All of the bones of the limbs are affected by varying degrees of aplasia or hypoplasia. Chapter 1 : The Chondrodystrophies 27 Grebe disease is inherited as an autosomal recessive trait. The pathogenesis of this disorder is unknown, but is obviously different from the two other forms of achondrogenesis, and the term" achondrogenesis" should not be used for this disorder.

The radiographic features of achondrogenesis type I are diagnostic, with marked underossification of the lumbar vertebrae, sacrum, pubis, and ischium (Fig. 175,264,272,303 The vertebral bodies are often completely unossified or barely visible, with the lower dorsal and upper lumbar vertebrae least severely involved. There is an increase in the height of the intervertebral spaces, but the interpedicular distances are normal. The sacrum and pubic bones are not seen, and the ischium is at the most only faintly visible.

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


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