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


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Keutel syndrome in a patient presenting with hearing loss