Keutel syndrome in a patient presenting with hearing loss

Acar G. O., Yılmaz M., Sekercioglu N., Yuksel A.

B-ENT, cilt.6, sa.3, ss.201-204, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 3
  • Basım Tarihi: 2010
  • Dergi Adı: B-ENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.201-204
  • İstanbul Üniversitesi Adresli: Evet

Özet

Keutel syndrome in a patient presenting with hearing loss. Keutel syndrome (KS) is a rare autosomal recessive disease which is mainly characterised by abnormal cartilage calcification, peripheral pulmonary artery stenosis, sensorineural and conductive hearing loss, brachytelephalangism, and midface hypoplasia. Here, we present and discuss a Keutel syndrome patient with hearing loss born to consanguineous parents (first cousins), along with all the characteristic features of KS.