New clinical findings in oculo-ectodermal syndrome

Margherita Silengo, Margherita Lerone, Marco Seri, Manuela Priolo, Laura Jarre

Research output: Contribution to journalArticlepeer-review


We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.

Original languageEnglish
Pages (from-to)39-41
Number of pages3
JournalClinical Dysmorphology
Issue number1
Publication statusPublished - 2000


  • Abnormal hair
  • Aplasia cutis
  • Epibulbar dermoids
  • Macrocephaly
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy


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