Article first published online: 13 DEC 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 107, Issue 1, pages 30–37, 1 January 2002
How to Cite
Stevens, C. A. and Sargent, L. A. (2002), Ablepharon-macrostomia syndrome. Am. J. Med. Genet., 107: 30–37. doi: 10.1002/ajmg.10123
- Issue published online: 13 DEC 2001
- Article first published online: 13 DEC 2001
- Manuscript Accepted: 13 SEP 2001
- Manuscript Received: 20 FEB 2001
- absent hair;
- absent eyelids;
- Barber-Say syndrome
We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. Many have persistent visual problems, often related to early corneal exposure. Hearing loss, poor hair growth, finger contractures, and growth retardation were also chronic problems. Developmental impairment was present in two-thirds of patients but was usually mild. This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features. © 2001 Wiley-Liss, Inc.