Keutel syndrome in a patient presenting with hearing loss


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

B-ENT, vol.6, no.3, pp.201-204, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 3
  • Publication Date: 2010
  • Journal Name: B-ENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.201-204
  • Istanbul University Affiliated: Yes

Abstract

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.