Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

Area of Science:

• Genetics
• Otolaryngology
• Developmental Biology

Background:

• Complete labyrinthine aplasia (CLA) is a rare congenital inner ear malformation.
• Labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome is the sole identified genetic cause of CLA associated with severe sensorineural hearing loss.

Observation:

• A case report details a child diagnosed with LAMM syndrome presenting with syndromic hearing loss.
• The child's presentation included features consistent with LAMM syndrome.

Findings:

• Genetic evaluation confirmed the LAMM syndrome diagnosis for the affected family.
• The study identified CLA as a key diagnostic indicator for LAMM syndrome.
• Analysis of the FGF3 gene mutation was highlighted as crucial for LAMM syndrome diagnosis.

Implications:

• Genetic testing is crucial for accurate diagnosis and management of suspected LAMM syndrome.
• Early diagnosis through genetic evaluation facilitates genetic counseling and prenatal diagnosis.
• Recognizing CLA as a distinct sign aids in identifying LAMM syndrome and guiding genetic analysis.