How to cite this article: Armour CM, Humphreys P, Hennekam RCM, Boycott KM. 2009. Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment. Am J Med Genet Part A 149A:2254–2257.
Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2254–2257, October 2009
How to Cite
Armour, C. M., Humphreys, P., Hennekam, R. C.M. and Boycott, K. M. (2009), Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment. Am. J. Med. Genet., 149A: 2254–2257. doi: 10.1002/ajmg.a.33003
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 14 JUN 2009
- Manuscript Received: 9 APR 2009
- spastic paraplegia;
- Fitzsimmons syndrome
Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old boy with Fitzsimmons syndrome. He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome. © 2009 Wiley-Liss, Inc.