How to cite this article: Isidor B, Baujat G, Le Caignec C, Pichon O, Martin-Coignard D, Toutain A, David A. 2009. Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization. Am J Med Genet Part A 149A:1734–1739.
Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization†
Article first published online: 15 MAY 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1734–1739, August 2009
How to Cite
Isidor, B., Baujat, G., Le Caignec, C., Pichon, O., Martin-Coignard, D., Toutain, A. and David, A. (2009), Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization. Am. J. Med. Genet., 149A: 1734–1739. doi: 10.1002/ajmg.a.32796
- Issue published online: 23 JUL 2009
- Article first published online: 15 MAY 2009
- Manuscript Accepted: 8 FEB 2009
- Manuscript Received: 5 OCT 2008
- amniotic band sequence;
- Disorganization-like syndrome;
- Di George syndrome;
- congenital skin pedicle
Congenital skin pedicles are very rare and usually described in association with multiple congenital anomalies. Here, we report on six patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion, one of whom was also shown to have 22q11.2 microdeletion syndrome, and four patients also had severe limb anomalies for which they were originally diagnosed with amniotic band sequence (ABS). We propose that all these infants instead show various forms of the phenotype resembling disorganization in the mouse. This article supports previous reports suggesting that “Disorganization-like” mutations may cause cases with apparent ABS. Owing to these reports, we propose the hypothesis that hamartomatous skin pedicles and “ABS plus” are different phenotypes of the human disorder resembling disorganization. © 2009 Wiley-Liss, Inc.