Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis

Am J Med Genet A. 2007 Dec 15;143A(24):2959-62. doi: 10.1002/ajmg.a.31969.

Abstract

Oculoectodermal syndrome (OES) is characterized by epibulbar dermoids, aplasia cutis congenita, and other abnormalities. Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Alopecia / diagnosis
  • Brain / abnormalities
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Eye Abnormalities / diagnosis*
  • Facies
  • Female
  • Hamartoma / diagnosis
  • Humans
  • Infant
  • Infant, Newborn
  • Lipomatosis / diagnosis*
  • Male
  • Neurocutaneous Syndromes / diagnosis*
  • Phenotype
  • Skin Abnormalities / diagnosis*
  • Syndrome