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CT scan of the right temporal bone (axial view) showing Mondini deformity of the cochlea..

CT scan of the right temporal bone (axial view) showing Mondini deformity of the cochlea..

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Hearing loss is one of the world’s leading causes of chronic health conditions. Cochlea plays a vital role in the hearing mechanisms and it converts sound energy into electrical stimuli which are transmitted to the brain through the neural pathway. The human cochlea is difficult to explore because of its vulnerability and bordering bony capsule. Co...

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... and Siebenmann-Bing dysplasia are characterized by malformation of the membranous labyrinth. Mondini dysplasia was originally described as malformation of the cochlea with shortened to 1.5 cochlear turns with normal semi-circular canals, an angled vestibular aqueduct, and dilated endolymphatic sac (Figure 2). 30 Since then, the word Mondini has been applied as an umbrella term in routine clinical practice to describe almost any type of congenital cochlear deformity. ...

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Autosomal-recessive genes account for over 80% of non-syndromic deafness patients, with a large proportion of those resulting in cochlear disease. In our case, on the left, there was a total lack of all inner ear structures, including the cochlea, semicircular canals, vestibular and cochlear aqueducts, resulting in Michael deformity/full labyrinthine aplasia. However, cochlea abnormally has 1.5 turns: a basal turn and a cystic apex with an expanded vestibule, resulting in the mondini deformity on the right. Pakistan has a high frequency of inherited pre-lingual deafness due to the strong cultural practice of consanguineous marriages and a lack of information regarding screening procedures.