Ossicular malposition in Larsen syndrome: a case report

Area of Science:

• Genetics
• Otolaryngology
• Pediatric Orthopedics

Background:

• Larsen syndrome is a rare autosomal dominant disorder characterized by multiple joint dislocations and distinctive facial features.
• The condition results from mutations in the gene encoding the filamin B protein, crucial for connective tissue development.
• Hearing impairment is an under-recognized feature of Larsen syndrome.

Observation:

• A case of Larsen syndrome presenting with conductive hearing loss is described.
• The hearing loss was attributed to malposition or dislocation of the ossicles within the middle ear.
• Audiological evaluation confirmed the conductive nature of the hearing deficit.

Findings:

• The study details the specific ossicular abnormalities contributing to hearing loss in Larsen syndrome.
• It explores the embryological and biomechanical factors leading to middle ear malformations in this condition.
• The findings underscore the importance of audiological screening in patients diagnosed with Larsen syndrome.

Implications:

• Early identification and management of hearing loss in Larsen syndrome can improve developmental outcomes.
• This case contributes to understanding the diverse clinical manifestations of Larsen syndrome.
• Further research into the genetic and developmental basis of hearing loss in Larsen syndrome is warranted.