Literature DB >> 17582979

Familiar spastic paraplegia presenting in a boy with Klinefelter syndrome--case report.

Sajra Uzicanin1, Feriha Catibusic, Sabina Terzic, Smail Zubcevic.   

Abstract

In this case report, the boy with familiar spastic paraplegia, the relatively rare genetic disorder and Klinefelter syndrome that was found during investigation, has been presented. The diagnosis of the disease has been established by anamnesis, clinical features and relevant diagnostic procedures, so the criteria for autosomal dominant type of the familiar spastic paraplegia have been fulfilled. The therapeutic possibilities are limited to the physical therapy and orthopedic treatment of feet deformities.

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Year:  2007        PMID: 17582979

Source DB:  PubMed          Journal:  Med Arh        ISSN: 0350-199X


  2 in total

1.  Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies.

Authors:  Benjamin S C Wade; Shantanu H Joshi; Martin Reuter; Jonathan D Blumenthal; Arthur W Toga; Paul M Thompson; Jay N Giedd
Journal:  Biol Sex Differ       Date:  2014-10-16       Impact factor: 5.027

2.  Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease.

Authors:  Pedro Enrique Jiménez Caballero
Journal:  Ann Indian Acad Neurol       Date:  2012-07       Impact factor: 1.383

  2 in total

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