一名伴有听力损失的患者患有克特尔综合征。
Keutel syndrome in a patient presenting with hearing loss.
作者信息
Acar G O, Yilmaz M, Sekercioğlu N, Yüksel A
机构信息
Department of Otorhinolaryngology, Istanbul University, Cerrahpaşa School of Medicine, Istanbul, Turkey.
出版信息
B-ENT. 2010;6(3):201-4.
PMID:21090163
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.
摘要
凯特尔综合征（KS）是一种罕见的常染色体隐性疾病，主要特征为软骨钙化异常、外周肺动脉狭窄、感音神经性和传导性听力损失、短指畸形以及面中部发育不全。在此，我们报告并讨论一名听力损失的凯特尔综合征患者，其父母为近亲（表亲），该患者具备凯特尔综合征的所有特征。
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