Abstract
Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss.
| Original language | English |
|---|---|
| Pages (from-to) | 118-121 |
| Number of pages | 4 |
| Journal | EXCLI Journal |
| Volume | 12 |
| Publication status | Published - 15 Feb 2013 |
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Keywords
- Computed tomography
- Large Vestibular Aqueduct Syndrome
- Sensorineural hearing loss
ASJC Scopus subject areas
- Molecular Medicine
- Pharmacology
- Drug Discovery
- Animal Science and Zoology
Cite this
Familial pattern of large vestibular aqueduct syndrome in a Chinese family. / Hazmi, M.; Ab Aziz, A.; Abdullah, Asma.
In: EXCLI Journal, Vol. 12, 15.02.2013, p. 118-121.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial pattern of large vestibular aqueduct syndrome in a Chinese family
AU - Hazmi, M.
AU - Ab Aziz, A.
AU - Abdullah, Asma
PY - 2013/2/15
Y1 - 2013/2/15
N2 - Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss.
AB - Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss.
KW - Computed tomography
KW - Large Vestibular Aqueduct Syndrome
KW - Sensorineural hearing loss
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M3 - Article
AN - SCOPUS:84874389268
VL - 12
SP - 118
EP - 121
JO - EXCLI Journal
JF - EXCLI Journal
SN - 1611-2156
ER -