Cockayne syndrome: The developing phenotype
Article first published online: 10 MAY 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 135A, Issue 2, pages 214–216, 1 June 2005
How to Cite
Tan, W.-H., Baris, H., Robson, C. D. and Kimonis, V. E. (2005), Cockayne syndrome: The developing phenotype. Am. J. Med. Genet., 135A: 214–216. doi: 10.1002/ajmg.a.30731
- Issue published online: 20 MAY 2005
- Article first published online: 10 MAY 2005
- Manuscript Accepted: 14 JAN 2005
- Manuscript Received: 5 NOV 2004
- Cockayne syndrome;
- neurodevelopmental regression;
- basal ganglia calcification
Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, “cachectic dwarfism” and progressive neurological degeneration. We present a 21-year-old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old. Family photographs demonstrated that the phenotype of Cockayne syndrome did not become evident until she was 8 years old. She had severe microcephaly, micrognathia, protruding ears, dental overcrowding with caries, progressive spastic quadriparesis, and severe developmental regression. Her head computed tomography (CT) showed bilateral calcification of the globus pallidus and global atrophy. The purpose of this clinical report is to alert clinicians to the fact that the phenotypic features of Cockayne syndrome may be very subtle early in the course of the disease. © 2005 Wiley-Liss, Inc.