Is enlarged vestibular aqueduct genetic?
Enlarged vestibular aqueduct (EVA; MIM 600791) is an autosomal recessive genetic disease causing congenital inner ear malformation that accounts for 1–12% of sensorineural deafness in children and adolescents [1].
Is enlarged vestibular aqueduct progressive?
One significant cause of progressive hearing loss is the congenital enlargement of the cochlear aqueducts. This condition is referred to as large vestibular aqueduct (LVA) syndrome, also known as enlarged or dilated vestibular aqueduct syndrome.
What is vestibular aqueduct syndrome?
Enlarged vestibular aqueduct (EVA) syndrome is a common congenital inner ear malformation characterized by a vestibular aqueduct with a diameter larger than 1.5 mm, mixed or sensorineural hearing loss that ranges from mild to profound, and vestibular disorders that may be present with a range from mild imbalance to …
Where is the spiral ligament?
The spiral ligament is a fibrous cushion located between the stria vascularis and the bony otic capsule.
What is the meaning of Mondini malformation?
Mondini malformation is a historical term used to describe an incomplete partition type II anomaly with large vestibular aqueduct.
What is Mondini dysplasia?
Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils.
What are the radiographic features of Mondini abnormality?
Radiographic features. The Mondini abnormality consists of a triad 1: abnormal cochlea only 1.5 turns (instead of the normal 2.5 turns) normal basal turn with a cystic apex in place of the distal 1.5 turns. enlarged vestibule with normal semicircular canals. enlarged vestibular aqueduct containing a dilated endolymphatic sac.
Should we use the term “Mondini syndrome” to describe hearing loss?
Thus, most would favor not using the term, except perhaps in cases where the findings exactly match those described by Mondini. If any doubt it is best to just describe the anatomical abnormalities. Patients have sensorineural hearing loss, which is usually bilateral.