Chronic otitis media with effusion (OME) is the leading cause of hearing loss during childhood. In bacterial etiology of OME, the most frequent pathogens responsible are Haemophilus influenzae followed by Streptococcus pneumoniae and Moraxella catarrhalis. This study aimed at evaluating the accuracy of nasopharyngeal (NP) specimens in the identification of...
A Complex TFAP2A Allele Is Associated With Branchio-Oculo-Facial Syndrome and Inner Ear Malformation in a Deaf Child
We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis...
Complete Labyrinthine Aplasia: Clinical and Radiologic Findings with Review of the Literature
Complete labyrinthine aplasia (CLA), also referred to as Michel aplasia, is a severe congenital anomaly of the inner ear, defined by the complete absence of inner ear structures. The purpose of this study was to document the imaging findings in a series of patients with CLA, with review of the...