Fitzsimmons–Guilbert syndrome

Pathophysiology

With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.

Diagnosis

Treatment

History

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. 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.

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.

References

References

1. "Paraplegia – brachydactyly – cone-shaped epiphysis". ORPHANET.
2. (1987). "Spastic paraplegia associated with brachydactyly and cone shaped epiphyses". J Med Genet.
3. Hennekam R. (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". J Med Genet.
4. (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.