title: Keutel syndrome in a patient presenting with hearing loss.
abstract: 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.
authors.affiliation: Department of Otorhinolaryngology, Istanbul University, Cerrahpaşa School of Medicine, Istanbul, Turkey. gulozbilenacar@gmail.com
authors.forename: G O
authors.initials: GO
authors.lastname: Acar
authors.forename: M
authors.initials: M
authors.lastname: Yilmaz
authors.forename: N
authors.initials: N
authors.lastname: Sekercioğlu
authors.forename: A
authors.initials: A
authors.lastname: Yüksel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002357:Cartilage Diseases / Q000150:complications / Q000175:diagnosis*; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome