New clinical findings in oculo-ectodermal syndrome

Clin Dysmorphol. 2000 Jan;9(1):39-41. doi: 10.1097/00019605-200009010-00008.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Child, Preschool
  • Ectoderm / pathology*
  • Ectodermal Dysplasia / pathology
  • Hair / abnormalities
  • Humans
  • Intellectual Disability / pathology
  • Male
  • Seizures / pathology
  • Skull / abnormalities
  • Strabismus / pathology*
  • Syndrome