Fitzsimmons–Guilbert 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 metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.[1]
Pathophysiology[edit | edit source]
With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.
Diagnosis[edit | edit source]
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Treatment[edit | edit source]
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History[edit | edit source]
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[edit | edit source]
External links[edit | edit source]
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