JOURNAL ARTICLE

Inner Ear Anomalies in Children with Apert Syndrome: A Radiological and Audiological Analysis

Emma S Hogg, Nesrettin F Turgut, Emma McCann, Shivaram Avula, Sujata De, Sunil D Sharma
Journal of Craniofacial Surgery 2022 March 10
35275865

INTRODUCTION: Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes.

MATERIALS AND METHODS: This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing.

RESULTS: Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss.

CONCLUSION: To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
35275865
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.