By Stacey Blachford

ISBN-10: 0787656127

ISBN-13: 9780787656126

V. 1. A - L -- v. 2. M - Z

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Every cell has hundreds of different types of receptors. The fibroblast growth factor receptor transports fibroblast growth factors into a cell. Fibroblast growth factors play a role in the normal growth and development of bones. When the receptors for fibroblast growth factors do not work properly, the cell does not receive enough fibroblast growth factors and results in abnormal growth and development of bones. Achondroplasia is caused by mutations in the FGFR3 gene. Two specific mutations account for approximately 99% of achondroplasia.

Physical adaptations can include stools to increase accessibility and lowering of switches and counters. Two treatments have been used to try to increase the final adult height of individuals with achondroplasia –limb-lengthening and growth hormone therapy. There are risks and benefits to both treatments and as of 2001, they are still considered experimental. Limb-lengthening involves surgically attaching external rods to the long bones in the arms and legs. These rods run parallel to the bone on the outside of the body.

OMIM—Online Mendelian Inheritance in Man. 232300Ͼ (February 12, 2001). The Pompe’s Disease Page. htmlϾ (February 12, 2001). ” Genzyme Corporation Press Release (October 5, 2000). ”Duke University Medical Center Press Release (May 24, 1999). Prognosis Acid maltase deficiency of all three types is 100% fatal. Individuals affected with infantile acid maltase deficiency generally die from heart or respiratory failure prior to age one. Individuals affected with childhood acid maltase deficiency generally die from respiratory failure between the ages of three and 24.

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The Gale Encyclopedia of Genetic Disorders by Stacey Blachford


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