Inner ear malformations are present in 20% of patients with sensorineural hearing loss.
Although the first descriptions date to the 18th century, in recent years the knowledge about …

BACKGROUND AND PURPOSE: Complete labyrinthine aplasia (CLA), also referred to as
Michel aplasia, is a severe congenital anomaly of the inner ear, defined by the complete …

Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been
discovered in an autosomal recessive form of syndromic deafness characterized by …

Despite the low overall prevalence of individual rare diseases, cochlear dysfunction leading
to hearing loss represents a symptom in a large proportion. The aim of this work was to …

Background Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM
syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia …

The evaluation of children with congenital/developmental hearing loss has undergone
substantial transformation in recent years. This communication focuses on the most common …

Abstract Introduction Inner ear malformations (IEMs) are rare and it is unusual to encounter
the rarest of them, namely labyrinthine aplasia (LA) and otocyst deformity. They do, however …

Despite the low overall prevalence of individual rare diseases, cochlear dysfunction leading
to hearing loss represents a symptom in a large proportion. The aim of this work was to …

We sought better understanding about the facial nerve anatomy in the rare inner ear Michel
anomaly to help better define this aplasia and prevent potential complications in surgery on …

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 …