You searched for "syndrome"
Branchio Oto Renal syndrome
Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...Hearing loss and Alport syndrome
Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...Chronic cough hypersensitivity syndrome
We all have patients who give us a ‘heartsink’ feeling; for many of us, the coughing patient is exactly such a situation. In this overview, Bhaskar Ram and Sangeeta Maini outline their approach to diagnosis. Declan Costello, Editor. Introduction Chronic...Living with Usher syndrome
“Usher people often still have sharp, clear central vision. It is the corner of their eye that is missing. This is why the Usher person often does not feel or look blind. In the early days they may not even...Superior semicircular canal dehiscence syndrome
In this article, Hannah North and Simon Lloyd give us an overview of the complex condition of superior semicircular canal dehiscence (SSCD) syndrome, including diagnosis, treatment and management. Superior semicircular canal dehiscence (SSCD) is a bony defect of the otic...
Early habilitation for hearing impairment in children with Down syndrome
Approximately 40-80% of children with Down syndrome have hearing impairment in addition to speech and language impairment. The commonest cause of hearing impairment in young children is otitis media with effusion. This paper investigated the impact of early hearing loss...The impact of hearing loss in children with Down syndrome
Hearing loss and language development Down syndrome (DS) usually arises due to trisomy 21 and is associated with intellectual disability and risks of developmental delays and difficulties, including hearing loss. Hearing loss is common in children with DS [1]. In...
Postconcussion syndrome: weighing up the options on balance
Balance problems, dizziness, headaches, nausea, vomiting and sensitivity to light and sound, are a few of the symptoms which may be associated with post concussion syndrome (PCS), concussion symptoms which persist longer than 21 days. This article presents a physical...
Is there a role for facial nerve decompression in Ramsay Hunt syndrome?
This is an interesting paper. The authors recommend a transmastoid facial decompression for patients with complete facial nerve paralysis with House Brackman HB 5/6 who do not show any sign of recovery after two weeks of treatment following a diagnosis...
Cochlear implantation in children with congenital long QT syndrome
Jervell and Lange-Neilsen syndrome is a condition where sensorineural deafness coincides with inherited abnormalities of the heart, resulting in prolonged ventricular repolarisation, frequently shown on an ECG with a prolonged QT interval. These children can present at implant centres for...
Diagnostic criteria for superior semicircular canal dehiscence syndrome
The latest Bárány Society’s consensus document on diagnostic criteria for vestibular disorders is one for superior semicircular canal dehiscence syndrome (SCDS). There are three major categories: (A) Symptoms consistent with a third mobile labyrinthine window; (B) Physiologic tests – clinical...
