From Wikipedia, the free encyclopedia
Fitzsimmons–Guilbert syndrome
Other namesParaplegia-brachydactyly-cone-shaped epiphysis syndrome

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 metaphysealphalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. [1]

Pathophysiology

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

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. [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]

References

  1. ^ "Paraplegia – brachydactyly – cone-shaped epiphysis". ORPHANET. Retrieved 2007-03-17.
  2. ^ a b Fitzsimmons J, Guilbert P (1987). "Spastic paraplegia associated with brachydactyly and cone shaped epiphyses". J Med Genet. 24 (11): 702–5. doi: 10.1136/jmg.24.11.702. PMC  1050351. PMID  3430547.
  3. ^ Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". J Med Genet. 31 (3): 251–2. doi: 10.1136/jmg.31.3.251. PMC  1049754. PMID  8014978.
  4. ^ 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. doi: 10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO;2-8. PMID  10323731.

External links

From Wikipedia, the free encyclopedia
Fitzsimmons–Guilbert syndrome
Other namesParaplegia-brachydactyly-cone-shaped epiphysis syndrome

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 metaphysealphalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. [1]

Pathophysiology

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

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. [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]

References

  1. ^ "Paraplegia – brachydactyly – cone-shaped epiphysis". ORPHANET. Retrieved 2007-03-17.
  2. ^ a b Fitzsimmons J, Guilbert P (1987). "Spastic paraplegia associated with brachydactyly and cone shaped epiphyses". J Med Genet. 24 (11): 702–5. doi: 10.1136/jmg.24.11.702. PMC  1050351. PMID  3430547.
  3. ^ Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". J Med Genet. 31 (3): 251–2. doi: 10.1136/jmg.31.3.251. PMC  1049754. PMID  8014978.
  4. ^ 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. doi: 10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO;2-8. PMID  10323731.

External links


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