[Otologic findings in the Apert syndrome]

Area of Science:

• Otolaryngology
• Medical Imaging
• Genetics

Background:

• Apert syndrome, a craniosynostotic condition, is known for congenital temporal bone malformations.
• This case highlights potential otological complications associated with Apert syndrome.

Observation:

• A 13-year-old girl with Apert syndrome presented with bilateral high jugular bulbs, noted on CT scan.
• The right jugular bulb had a membranous boundary to the external ear canal, a rare finding.

Findings:

• The study found no increased incidence of high jugular bulbs in Apert syndrome compared to other craniosynostotic syndromes.
• However, diverse temporal bone malformations are anticipated in Apert syndrome.

Implications:

• Recommend pre-operative otorhinolaryngeal evaluation for all Apert syndrome patients.
• Suggest CT scans of temporal bones before middle ear surgery to identify potential anomalies like high jugular bulbs.