Cochlear implantation in a child with subtelomeric 1q deletion syndrome and Dandy-Walker malformation

Subtelomeric 1q deletion syndrome is a rare disorder, first described by Mankinen et al. in 1976 [1]. Patients with this syndrome are characterized by mental and growth retardation with prenatal onset, microcephaly, seizures, short neck, hand and foot abnormalities, hypospadias and a variety of other midline defects, including corpus callosum, cardiac, genital, and gastro-esophageal abnormalities [2]. The facial features of patients include a full, round face with prominent forehead, upward slanting palpebral fissures, epicanthic folds, a short, broad nose with a flat nasal bridge, thin lips, downturn corners of mouth, micrognathia, low set ears, and an abnormal palate (sometimes cleft palate) [3].

Source: International Journal of Pediatric Otorhinolaryngology Extra - March 2, 2016 Category: ENT & OMF Authors: Raşit Cevizci, Selin Üstün Bezgin, Handan Turan Dizdar, Oğuz Yılmaz, Burak Kersin, Yıldırım A. Bayazıt Tags: Case Report Source Type: research