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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 18, No. 1, 2012, pp. 125-126
Bioline Code: hg12025
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 18, No. 1, 2012, pp. 125-126

 en Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association
Singh, Usha Rani.; Asif, Shujaath; Kommu, Peter Prasanth Kumar. & D'Souza, Philomina


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.

Xeroderma pigmentosum-cockayne syndrome (XP-CS), demyelination, facial phenotype

© Copyright 2012 Indian Journal of Human Genetics.
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