Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance
Version of Record online: 23 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1390–1393, June 2013
How to Cite
2013. Palmo-plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance. Am J Med Genet Part A 161A:1390–1393., , , , , , , .
- Issue online: 22 MAY 2013
- Version of Record online: 23 APR 2013
- Manuscript Accepted: 23 DEC 2012
- Manuscript Received: 31 MAR 2012
- intellectual disability;
- palmo-plantar hyperkeratosis;
- spastic paraplegia X-linked inheritance
In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance. © 2013 Wiley Periodicals, Inc.