PMID: 26790275Jan 23, 2016Paper

Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery
Liying Ao, Yongzhi Liu

Abstract

To analyze congenital sensorineural hearing loss combined with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). For the case of cochlear implantation to child with congenital sensorineural deafness combined BPES, accomplish routine examination and assessment, combining with literature to analyze the clinical diagnosis of this disease and its significance. Sensorineural hearing loss is a common congenital diseases with neonatal incidence of 1 per thousand - 3 per thousand, 50%-70% of deafness is associated with genetic factors, the incidence of congenital sensorineural hearing loss combined with eye disease is about 40%-60%, mainly reflected in ametropia and retinopathy. BPES's main clinical manifestations is blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES is a rare autosomal dominant disease caused by FOXL 2 gene mutation, sometimes associated with retarded growth, delayed development, congenital heart disease, and microcephaly. Suffering from both sensorineural hearing loss and BPES is rare in reported literature. This case is diagnosed by clinical examination, without visual impairment. Facial nerve dysplasia has been found during the surgery. For congenital deafness patients with eye disease ...Continue Reading

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