Keutel syndrome in a patient presenting with hearing loss


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

B-ENT, cilt.6, ss.201-204, 2010 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 6 Konu: 3
  • Basım Tarihi: 2010
  • Dergi Adı: B-ENT
  • Sayfa Sayısı: ss.201-204

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.