Fitzsimmons-Guilbert syndrome
From Wikipedia, the free encyclopedia
| OMIM | 270710 |
|---|
Fitzsimmons-Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.[1]
[edit] History
Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life.[2] Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. In addition, they had nonspecific dysarthria and low-normal intellectual capacity.[2]
Since the original report, three more cases have been described, including two (Lacassie et al) with a more severe mental retardation and a different metacarpal-phalangeal pattern profile, though these cases may represent a new disease entity.[3][4]
[edit] Pathophysiology
With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.
[edit] References
- ^ Paraplegia - brachydactyly - cone-shaped epiphysis. ORPHANET. Retrieved on March 17, 2007.
- ^ a b Fitzsimmons J, Guilbert P (1987). "Spastic paraplegia associated with brachydactyly and cone shaped epiphyses". J Med Genet 24 (11): 702-5. PMID 3430547.
- ^ Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". J Med Genet 31 (3): 251-2. PMID 8014978.
- ^ Lacassie Y, Arriaza M, Duncan M, Dijamco C, McElveen C, Stahls P (1999). "Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?". Am J Med Genet 84 (2): 90-3. PMID 10323731.
