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Paediatrics
Published in Adnan Darr, Karan Jolly, Jameel Muzaffar, ENT Vivas, 2023
Paula Coyle, Eishaan Bhargava, Adnan Darr, Karan Jolly, Kate Stephenson, Michael Kuo
Investigations: Genetics (Branchio-oto-renal syndrome) Renal USSMRI: For first cleft anomalies to assess relation to CN VIIFistulogram rarely undertakenBarium swallow for third/fourth cleft anomalies
Congenital neck lumps
Published in Neeraj Sethi, R. James A. England, Neil de Zoysa, Head, Neck and Thyroid Surgery, 2020
First branchial cleft sinus or fistulae may be associated with first branchial arch abnormalities. Patients may have unilateral or bilateral facial palsy, hemifacial microsomia or first branchial arch syndromes such as Treacher Collins syndrome. Patients with first arch abnormalities have a higher propensity for concurrent otologic anomalies and hearing screening should be performed. In patients with any branchial abnormality, particularly if bilateral, the potential association with hearing loss, pinna abnormalities and renal malformations, known as branchio-oto-renal syndrome, should be considered with a low threshold for hearing assessment and renal ultrasound.
Cysts and Sinuses of the Head and Neck
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Keith G. Trimble, Luke McCadden
One inherited (autosomal dominant with variable penetrance) disorder to be recognized is branchio-oto-renal syndrome which involves structural defects of the outer, middle and inner ear, branchial cleft anomalies and renal abnormalities. Bilateral preauricular sinuses and bilateral second branchial cleft sinuses may be present with hearing loss. Mutations in the EYA1 gene on chromosome 8q13 are found in 40% of patients.7 Hearing assessment and ultrasound of renal tracts are recommended management.
The applications of targeted delivery for gene therapies in hearing loss
Published in Journal of Drug Targeting, 2023
Melissa Jones, Bozica Kovacevic, Corina Mihaela Ionescu, Susbin Raj Wagle, Christina Quintas, Elaine Y. M. Wong, Momir Mikov, Armin Mooranian, Hani Al-Salami
It is also important to highlight the category of hereditary hearing loss, which may be one of the main benefactors in the development of an inner ear targeted gene therapy. Early onset forms of deafness, often presented as hereditary deafness, has been indicated to result from a wide array of genes, with an estimation that over 50% of congenital deafness presentations in newborns are hereditary in nature [33,34]. Classifications of genetic deafness are derived based upon the mutation inheritance mode, with ongoing novel discoveries of genes associated with hearing loss. Molecular genetic tests can be used to identify deafness, both syndromic and non-syndromic in nature. Genetic counselling is a key element in the diagnosis, with modes of inheritance listed as including autosomal recessive and dominant, in addition to X-linked Mendelian and mitochondrial inheritance from a maternal lineage. Syndromic hearing loss which is autosomal recessive in nature includes Usher syndrome and Pendred syndrome, whilst those which are autosomal dominant include Branchio-oto-renal syndrome and Waardenburg syndrome [35–37].
A case report of first hearing loss, then painful menarche: a young girl with Herlyn–Werner–Wunderlich syndrome (OHVIRA syndrome) and concomitant inner ear anomalies
Published in Journal of Obstetrics and Gynaecology, 2021
Ayşe Ö. Balık, Buket Yağcı, Murat Özoğul, Fisun Vural
Kidney agenesis, part of HWWS syndrome, is a component of some syndromes such as branchio-oto-renal syndrome (BORS), it can be accompanied with inner and middle ear anomalies (Genetic and Rare Diseases Information Center 2011). To our knowledge, no inner ear anomaly with HWWS syndrome has been reported in the literature. In this report, a case of HWWS with an uncommon appearance in a 13-year-old girl with an inner ear anomaly is presented.
Cochlear implantation in Branchiootorenal syndrome – case report and review of the literature
Published in Cochlear Implants International, 2022
Luchen Tian, Niels West, Per Cayé-Thomasen
Branchiootorenal syndrome (BOR) is an autosomal dominant disorder manifesting with branchial, otological and renal anomalies presenting as branchial fistulae or cysts, cup-shaped pinnae, preauricular pits, middle and/or inner ear malformations and renal dysplasia. Hearing loss – conductive, sensorineural or mixed, is documented as the most common consequence of BOR (Fraser, Sproule and Halal, 1980).