Audiologic abnormalities of Fanconi anaemia.

Area of Science:

• Otolaryngology
• Genetics
• Hematology

Background:

• Fanconi anaemia (FA) is a rare autosomal recessive disorder.
• FA is associated with bone marrow failure, congenital anomalies, and malignancy risk.
• Otologic manifestations, including hearing loss, are recognized in FA patients.

Purpose of the Study:

• To review the audiologic and otologic features in children with Fanconi anaemia.
• To identify the common patterns of hearing loss in FA.
• To emphasize the importance of routine audiological screening in FA.

Main Methods:

• Retrospective review of medical records of eight pediatric FA patients.
• Analysis of patient demographics, physical abnormalities, hematological data.
• Evaluation of otological and audiological findings.

Main Results:

• 50% of FA patients exhibited hearing loss.
• The hearing loss was characterized as asymmetrical, bilateral, conductive, and more severe at lower frequencies.
• Two patients presented with microtia and stenotic ear canals.

Conclusions:

• Asymmetrical bilateral conductive hearing loss is a common audiologic finding in FA.
• Hearing loss in FA can be progressive.
• Routine audiological screening is vital for early detection and management of hearing loss in FA patients.