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Related Experiment Videos

Ablepharon-macrostomia syndrome.

Cathy A Stevens1, Larry A Sargent

  • 1Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Unit and T.C. Thompson Children's Hospital, Chattanooga, Tennessee 37403, USA. stevenca@erlanger.org

American Journal of Medical Genetics
|January 25, 2002
PubMed
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Ablepharon-macrostomia syndrome (AMS) is a rare disorder characterized by distinct facial and physical anomalies. This study details new cases and long-term follow-up, clarifying AMS

Area of Science:

  • Genetics and rare diseases
  • Pediatric medicine
  • Ophthalmology

Background:

  • Ablepharon-macrostomia syndrome (AMS) is a rare congenital disorder.
  • Previous reports describe characteristic facial and physical anomalies.
  • Long-term natural history data for AMS is limited.

Observation:

  • Three new cases of AMS are presented.
  • A 10-year follow-up of a previously reported newborn with AMS is included.
  • The cohort includes the first reported adult patient with AMS.

Findings:

  • Consistent features include absent hair/brows/lashes, eyelid anomalies, macrostomia, ear and genital abnormalities.
  • Chronic issues observed: visual impairment (corneal exposure), hearing loss, poor hair growth, finger contractures, growth retardation.

Related Experiment Videos

  • Mild developmental impairment was noted in two-thirds of patients.

    • Implications:

    • This study expands the understanding of AMS natural history.
    • The findings support AMS as a distinct entity from Barber-Say syndrome.
    • Highlights the importance of managing chronic complications, particularly visual deficits.