How to cite this article: Carvalho DR, Santos SCL, Oliveira MDV, Speck-Martins CE. 2011. Tibial hemimelia in Langer–Giedion syndrome with 8q23.1-q24.12 interstitial deletion. Am J Med Genet Part A 155: 2784–2787.
Tibial hemimelia in Langer–Giedion syndrome with 8q23.1-q24.12 interstitial deletion†
Article first published online: 21 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2784–2787, November 2011
How to Cite
Carvalho, D. R., Santos, S. C. L., Oliveira, M. D. V. and Speck-Martins, C. E. (2011), Tibial hemimelia in Langer–Giedion syndrome with 8q23.1-q24.12 interstitial deletion. Am. J. Med. Genet., 155: 2784–2787. doi: 10.1002/ajmg.a.34233
- Issue published online: 20 OCT 2011
- Article first published online: 21 SEP 2011
- Manuscript Accepted: 10 JUL 2011
- Manuscript Received: 14 JUN 2011
- Langer–Giedion syndrome;
- chromosome deletion;
- tibial hemimelia;
- absence of tibia;
Langer–Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval. © 2011 Wiley Periodicals, Inc.