How to Cite this Article: Rump P, Jongbloed JDH, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB. 2011. Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet Part A 155:2566–2570.
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene†
Article first published online: 9 SEP 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, pages 2566–2570, October 2011
How to Cite
Rump, P., Jongbloed, J. D.H., Sikkema-Raddatz, B., Mundlos, S., Klopocki, E. and van der Luijt, R. B. (2011), Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am. J. Med. Genet., 155: 2566–2570. doi: 10.1002/ajmg.a.34218
- Issue published online: 20 SEP 2011
- Article first published online: 9 SEP 2011
- Manuscript Accepted: 21 MAY 2011
- Manuscript Received: 15 NOV 2010
- madelung deformity;
- albright hereditary osteodystrophy;
- brachydactyly type E
Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E-like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene. © 2011 Wiley-Liss, Inc.