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, cilt.164, sa.11, ss.2947-2951, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 164 Sayı: 11
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/ajmg.a.36727
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2947-2951
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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.