Wolf-Hirschhom syndrome with posterior intraorbital coloboma cyst: an unusual case

Tütüncüler F., Acunas B., Hiçdönmez T., Deviren A., Pelitli V.

BRAIN & DEVELOPMENT, cilt.26, sa.3, ss.203-205, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/s0387-7604(03)00125-6
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.203-205
  • İstanbul Üniversitesi Adresli: Evet

Özet

Wolf-Hirschhorm syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos. (C) 2003 Elsevier B.V. All rights reserved.