Fitzsimmons–Guilbert syndrome

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Fitzsimmons–Guilbert syndrome_table_infobox_0

Fitzsimmons–Guilbert syndromeFitzsimmons–Guilbert syndrome_header_cell_0_0_0
Other namesFitzsimmons–Guilbert syndrome_header_cell_0_1_0 Paraplegia-brachydactyly-cone-shaped epiphysis syndromeFitzsimmons–Guilbert syndrome_cell_0_1_1

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. Fitzsimmons–Guilbert syndrome_sentence_0

Pathophysiology Fitzsimmons–Guilbert syndrome_section_0

With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible. Fitzsimmons–Guilbert syndrome_sentence_1

Diagnosis Fitzsimmons–Guilbert syndrome_section_1

Treatment Fitzsimmons–Guilbert syndrome_section_2

History Fitzsimmons–Guilbert syndrome_section_3

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. Fitzsimmons–Guilbert syndrome_sentence_2

Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. Fitzsimmons–Guilbert syndrome_sentence_3

In addition, they had nonspecific dysarthria and low-normal intellectual capacity. Fitzsimmons–Guilbert syndrome_sentence_4

Since the original report, three more cases have been described, including two (Lacassie et al.) Fitzsimmons–Guilbert syndrome_sentence_5

with a more severe mental retardation and a different metacarpal-phalangeal pattern profile, though these cases may represent a new disease entity. Fitzsimmons–Guilbert syndrome_sentence_6


Credits to the contents of this page go to the authors of the corresponding Wikipedia page: en.wikipedia.org/wiki/Fitzsimmons–Guilbert syndrome.