Research Article

Ablepharon-macrostomia syndrome

  1. Cathy A. Stevens1,*,
  2. Larry A. Sargent2

Article first published online: 13 DEC 2001

DOI: 10.1002/ajmg.10123

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 107, Issue 1, pages 30–37, 1 January 2002

Additional Information

How to Cite

Stevens, C. A. and Sargent, L. A. (2002), Ablepharon-macrostomia syndrome. American Journal of Medical Genetics, 107: 30–37. doi: 10.1002/ajmg.10123

Author Information

  1. 1

    Department of Pediatrics, University of Tennessee College of Medicine–Chattanooga Unit and T.C. Thompson Children's Hospital, Chattanooga, Tennessee

  2. 2

    Department of Plastic Surgery, University of Tennessee College of Medicine–Chattanooga Unit, Chattanooga, Tennessee

*Department of Pediatrics, T.C. Thompson Children's Hospital, 910 Blackford Street, Chattanooga, Tennessee 37403.

Publication History

  1. Issue published online: 13 DEC 2001
  2. Article first published online: 13 DEC 2001
  3. Manuscript Accepted: 13 SEP 2001
  4. Manuscript Received: 20 FEB 2001

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Keywords:

  • absent hair;
  • absent eyelids;
  • microblepharon;
  • Barber-Say syndrome

Abstract

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.

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