How to cite this article: Heyen CA, Delk PR, Bull MJ, Weaver DD. 2008. A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones. Am J Med Genet Part A 146A:3120–3125.
A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones†
Article first published online: 12 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3120–3125, 15 December 2008
How to Cite
Heyen, C. A., Delk, P. R., Bull, M. J. and Weaver, D. D. (2008), A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones. Am. J. Med. Genet., 146A: 3120–3125. doi: 10.1002/ajmg.a.32573
- Issue published online: 21 NOV 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 4 SEP 2008
- Manuscript Received: 8 NOV 2007
- new syndrome;
- uric acid kidney stones
We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome. © 2008 Wiley-Liss, Inc.