ArticleThe journal of international advanced otology2022
Cholesteatoma in Children with Sotos Syndrome.
Article in The journal of international advanced otology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.Biochemical genetics · 2026Article
- Cholesteatoma Severity Determines the Risk of Recurrent Paediatric Cholesteatoma More Than the Surgical Approach.Journal of clinical medicine · 2024Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSotos syndrome is a rare genetic disorder characterized by neurodevelopmental delay and excessive childhood growth including macrocephaly. In this study, we present our experience of children with Sotos syndrome and cholesteatoma.
methodsRetrospective case note review and cross-referencing with hospital picture archive and communication systems or cases identified from a prospective database of consecutive cholesteatoma surgeries.
resultsA total of 400 children underwent surgery for acquired cholesteatoma and 5 (1%) had Sotos syndrome (1 bilaterally). In comparison, 42(11%) had cleft palate which is around 10 times more common than Sotos syndrome, 5 (1%) had Down syndrome, and 3 (1%) had Turner syndrome. The median age at primary surgery was 8 years old (3.5-10.9 years), 124 children with Sotos syndrome were identified in picture archive and communication systems (4% with cholesteatoma) of which temporal bone imaging was available in 86 (70%) at the median age of 9 years (0-17.2), and 33/86 (38%) had normal ears bilaterally on all imaging. Changes consistent with fluid or inflammation were present in 9/30 (30%) computed tomography and 24/72 (33%) magnetic resonance imaging scans. Development of mastoid pneumatization was impaired in 20/30 (67%) computed tomography and 8/72 (11%) magnetic resonance imaging scans. At 5 years, children with Sotos syndrome (33%) had greater recidivism than those with cleft palate (15%) (Kaplan-Meier log-rank analysis, P=.001)
conclusionChildren with Sotos syndrome appear to be at increased risk of developing acquired cholesteatoma. Impaired temporal bone pneumatization is a common incidental finding in Sotos syndrome in keeping with this risk. Further study of this previously unreported association may improve the understanding of pathogenetic mechanisms in cholesteatoma.
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