Oculoectodermal Syndrome: Report of a New Case With a Broad Clinical Spectrum

ASLAN D., AKATA R. F. , Schroeder J., Happle R., Moog U., Bartsch O.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.11, pp.2947-2951, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 164 Issue: 11
  • Publication Date: 2014
  • Doi Number: 10.1002/ajmg.a.36727
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2947-2951
  • Keywords: Oculoectodermal syndrome, aplasia cutis congenita, epibulbar dermoid, epidermal nevus, hypopigmented macule, digital anomaly, OCULO-ECTODERMAL SYNDROME, EPIDERMAL NEVUS SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MOSAICISM, PHENOTYPE, DERMOIDS, PATTERNS, SKIN
  • Gazi University Affiliated: Yes


Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly. (c) 2014 Wiley Periodicals, Inc.