Adams-Oliver Syndrome European Consortium.
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects†
Article first published online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1860–1881, August 2009
How to Cite
Snape, K. M.G., Ruddy, D., Zenker, M., Wuyts, W., Whiteford, M., Johnson, D., Lam, W. and Trembath, R. C. (2009), The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am. J. Med. Genet., 149A: 1860–1881. doi: 10.1002/ajmg.a.32708
How to cite this article: Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. 2009. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet Part A 149A:1860–1881.
- Issue published online: 23 JUL 2009
- Article first published online: 16 JUL 2009
- Manuscript Accepted: 11 DEC 2008
- Manuscript Received: 2 MAY 2008
- NIHR Guy's and St Thomas' Hospital NHS Foundation Trust/Kings College London Comprehensive Biomedical Research Centre
- aplasia cutis congenita;
- limb defects;
- Adams–Oliver syndrome;
The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley-Liss, Inc.