Fitzsimmons-Guilbert syndrome
| Fitzsimmons-Guilbert syndrome | |
| 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]
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]
Pathophysiology
With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.
References
- ↑ "Paraplegia - brachydactyly - cone-shaped epiphysis". ORPHANET. Retrieved 2007-03-17.
- ↑ 2.0 2.1 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.