Cockayne syndrome–xeroderma pigmentosum complex with demyelination: A rare association.
Loading...
Date
2012-01
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.
Description
Keywords
Xeroderma pigmentosum–cockayne syndrome (XP–CS), demyelination, facial phenotype
Citation
Singh Usha Rani, Asif Shujaath, Kommu Peter Prasanth Kumar, D’Souza Philomina. Cockayne syndrome–xeroderma pigmentosum complex with demyelination: A rare association. Indian Journal of Human Genetics. 2012 Jan; 18(1): 125-126.