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ExampleResearchPaper2007 - FIBRODYSPLASIA OSSIFICANS...

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FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Your name here Biology 423L 2006 Date
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Fibrodysplasia Ossificans Progressiva Abstract Fibrodysplasia ossificans progressive (FOP) is a rare autosomal dominant disorder of connective tissue that results in heterotopic osteogenesis in humans and results in the postnatal formation of an ectopic skeleton. It affects about 1 in 2 million people (Mahboubi et al , 2001). FOP was first described by Patin in 1648 as “the woman who turned into wood”. The term “FOP” was introduced by Bauer and Bode in 1800 and since then over 700 cases of the disorder have been reported. This disorder usually arises from a spontaneous mutation in a gene that gets passed down to future generations and since reproductive fitness is low (Kaplan et al , 1993) the rarity of this disorder increases making traditional positional cloning and linkage analysis difficult. There are very distinct clinical features for FOP. One of these features is the Congenital malformation of the great toes, with shortening of the first metatarsal and proximal phalanx which is the earliest phenotypic feature of FOP and is present in nearly all affected individuals at birth. (Meij et al , 2005). Another feature is the heterotopic ossification of soft tissue (Feldmen et al . 2000) and the third feature is the temporal progression of osteogenesis in characteristic anatomic patterns (Mahoubi et al , 2001). A person afflicted with FOP has basically 2 skeletons, one that was formed during embryogenesis called normatopic and a second skeleton that is formed around the first skeleton postnatally called a heterotopic skeleton. Spinal deformity is a variable feature of FOP. In a study researchers reviewed clinical records in order to characterize the spinal deformity in forty patients who have established diagnosis of FOP. 65% had scoliosis, present since childhood. 88% of those who had scoliosis had unbalanced c-shaped curves, while 12% of them had s-shaped curves (Shah et al , 1994). Scoliosis is seen as the result of asymmetric bars of heterotopic bone connecting the rib cage to the pelvis (Mahboubi et al , 2001)
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Figure 1 : FOP patients are characterized by malformed big toes. (Conner et al , 1982) Figure 2: On the left is a 25 year old man afflicted with FOP. On the right is the skeleton of that man at the age of 40 after he died of pneumonia. The picture on the right clearly shows how this man’s muscles around his shoulders and throughout his arms have been turned into bone and have become a part of his skeleton. (Feldmen et al , 2000)
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Figure 3: Spinal deformity is common in FOP patients. This is a figure of an 8 year old girl with an unbalanced c-shaped lumbar scoliosis. (Shah et al , 1994) FOP is a Progressive disorder. Although the rate of disease progression is variable, most patients are confined to a wheelchair by their early twenties. Mobility of the person with FOP becomes more rigid and disabled with age. Any injury to soft tissue
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This note was uploaded on 03/14/2011 for the course BIOL 423l taught by Professor Staff during the Spring '08 term at UNC.

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ExampleResearchPaper2007 - FIBRODYSPLASIA OSSIFICANS...

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