How to Cite this Article: Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. 2011. Ablepharon–Macrostomia syndrome—Extension of the phenotype. Am J Med Genet Part A 155: 3060–3062.
Ablepharon–Macrostomia syndrome—Extension of the phenotype†
Article first published online: 14 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 3060–3062, December 2011
How to Cite
Kallish, S., McDonald-McGinn, D. M., van Haelst, M. M., Bartlett, S. P., Katowitz, J. A. and Zackai, E. H. (2011), Ablepharon–Macrostomia syndrome—Extension of the phenotype. Am. J. Med. Genet., 155: 3060–3062. doi: 10.1002/ajmg.a.34287
- Issue published online: 21 NOV 2011
- Article first published online: 14 OCT 2011
- Manuscript Accepted: 27 MAY 2011
- Manuscript Received: 12 JAN 2011
- Ablepharon–Macrostomia syndrome;
- autosomal dominant inheritance
Ablepharon–Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported. © 2011 Wiley Periodicals, Inc.