Keutel syndrome in a patient presenting with hearing loss

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.