- Title:
- Keutel syndrome in a patient presenting with hearing loss
- Authors:
- G. Ö. Acar*, M. Ylmaz*, N. ekerciolu*, Yüksel A**
- Institutions:
- *Department of Otorhinolaryngology, and **Department of Genetics, Istanbul University, Cerrahpaa School of Medicine, Istanbul, Turkey
- Keywords:
- Keutel syndrome; hearing loss; cartilage calcification
- Pages:
- 201 - 204
- Abstract:
- Keutel syndrome in a patient presenting with hearing loss. Keutel syndrome (KS) is a rare autosomal reces- sive disease which is mainly characterised by abnormal cartilage calcification, peripheral pulmonary artery stenosis, sen- sorineural 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 character- istic features of KS.
- Issue:
- Vol. 6, 2010, 3rd trimester
- Download:
-
Keutel syndrome in a patient presenting with hearing loss