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Temporal bone dysplasia in Coffin-Siris syndrome
Jessica Wauchope1, Colin Leonard2, Steven McKinstry3
1Department of Ear, Nose and Throat, The Royal Belfast Hospital for Sick Children, Belfast, UK jwauchope02@qub.ac.uk.
BMJ Case Reports
|January 19, 2021
Summary
This study details a child with Coffin-Siris syndrome (CSS) and chronic ear discharge, revealing unexpected inner ear abnormalities. Early recognition of temporal bone issues is crucial for managing CSS patients needing mastoid procedures.
Area of Science:
- Otolaryngology
- Pediatric Genetics
- Medical Imaging
Background:
- Coffin-Siris syndrome (CSS) is a rare genetic disorder associated with various congenital anomalies.
- Chronic otorrhoea can be a presenting symptom in children with complex medical conditions.
- Accurate anatomical assessment is vital for surgical planning in pediatric otology.
Observation:
- A child diagnosed with Coffin-Siris syndrome presented with chronic right otorrhoea.
- CT and DR-MRI scans revealed unexpected inner ear abnormalities alongside middle ear disease.
- Measurements of the temporal bones showed significant deviations from typical anatomy.
Findings:
- The case demonstrated multiple inner ear malformations in a child with CSS.
- Comparison with normal temporal bone anatomy highlighted significant differences.
- The findings underscore the complexity of craniofacial and otological structures in CSS.
Implications:
- Temporal bone abnormalities should be considered in all children with Coffin-Siris syndrome or other dysmorphic conditions.
- Awareness of these abnormalities is critical for planning mastoid procedures in affected children.
- This case offers learning opportunities for managing complex pediatric otological cases across healthcare levels.
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