Ablepharon-macrostomia syndrome in a 46-year-old woman

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Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition.

Original languageEnglish
Pages (from-to)96-98
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume127 A
Issue number1
Publication statusPublished - May 15 2004


  • Ablepharon
  • Adult
  • AMS
  • Macrostomia
  • Phenotype
  • Syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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