1. Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss
- Author
-
Ishwar Chander Verma, Meenakshi Lallar, Veronica Arora, Renu Saxena, and Ratna Dua Puri
- Subjects
0303 health sciences ,Pediatrics ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Hearing loss ,Genetic counseling ,Microtia ,Prenatal diagnosis ,Gene mutation ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Labyrinthine aplasia ,Pediatrics, Perinatology and Child Health ,Microdontia ,medicine ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Genetics (clinical) ,030304 developmental biology ,Genetic testing - Abstract
Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.
- Published
- 2020