title: Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association.
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.
authors: Department of Pediatrics, Pondicherry Institute of Medical Sciences, Pondicherry, India.
authors: Usha Rani
authors: UR
authors: Singh
authors: Shujaath
authors: S
authors: Asif
authors: Peter Prasanth Kumar
authors: PP
authors: Kommu
authors: Philomina
authors: P
authors: D'Souza