COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING

Authors

  • Prajod Padmalayam Department of Ophthalmology, Ministry of Health, Al Bahar Eye Hospital
  • Preethi Balan Department of Oral medicine and Radiology, Sree Anjaneya Institute of Dental Sciences, Calicut, Kerala
  • Ramshi Sapkal Department of Oral medicine and Radiology, Rangoonwala Dental College, Pune

Abstract

Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals. Here we report a rare case of Cockayne's syndrome in a girl who presented with hallmark features specific to the syndrome. Dissemination of our knowledge about clinical manifestations encountered in Cockayne syndrome is instrumental not only for early evaluation and treatment to prolong life expectancy, but also to initiate early genetic counselling with parents concerning future pregnancies.

References

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Published

2015-09-30

How to Cite

Padmalayam, P., Balan, P., & Sapkal, R. (2015). COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING. Journal of Ayub Medical College Abbottabad, 27(3), 711–713. Retrieved from https://jamc.ayubmed.edu.pk/index.php/jamc/article/view/266

Issue

Vol. 27 No. 3 (2015): JOURNAL OF AYUB MEDICAL COLLEGE, ABBOTTABAD

Section

CASE REPORT

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