The mode of inheritance of otosclerosis is best described as:

• A Autosomal dominant with incomplete penetrance ✓
• B X-linked dominant
• C Autosomal recessive with complete penetrance
• D Mitochondrial maternal inheritance

Explanation

Otosclerosis is transmitted as an autosomal dominant trait with incomplete penetrance of roughly 40 percent, and variable expressivity explains why many carriers remain asymptomatic while others develop severe disease. Several genetic loci such as OTSC1 have been mapped. Complete penetrance recessive inheritance does not fit the pedigree pattern of affected individuals in successive generations, so option C is wrong.

Reference: Cummings Otolaryngology: Head and Neck Surgery, 7th ed.

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Written and medically reviewed by the StethoPrep medical team.