Fitzsimmons–Guilbert syndrome | |
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Other names | Paraplegia-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 metaphyseal– phalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. [1]
With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.[ citation needed]
This section is empty. You can help by
adding to it. (July 2017) |
This section is empty. You can help by
adding to it. (July 2017) |
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]
Fitzsimmons–Guilbert syndrome | |
---|---|
Other names | Paraplegia-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 metaphyseal– phalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. [1]
With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.[ citation needed]
This section is empty. You can help by
adding to it. (July 2017) |
This section is empty. You can help by
adding to it. (July 2017) |
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]