Branchio-oculo-facial syndrome with the atresia of external ear

Ozturk O., Tokmak A., Demirci L., Silan F., Guclu E.

International Journal of Pediatric Otorhinolaryngology, cilt.69, sa.11, ss.1575-1578, 2005 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 69 Sayı: 11
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1016/j.ijporl.2005.04.013
  • Dergi Adı: International Journal of Pediatric Otorhinolaryngology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1575-1578
  • Anahtar Kelimeler: Branchio-oculo-facial syndrome, External ear atresia, Mandibular hypoplasia, Maxillar hypoplasia, Preauricular pit
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Hayır

Özet

We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized. © 2005 Elsevier Ireland Ltd. All rights reserved.