Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.

Abstract excerpt

We report four siblings showing features of a pontobulbar palsy, a mixed spinal and upper motor neuropathy and variable deafness. The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive inheritance. Two children presented in the first 16 months of life with stridor and died of respiratory failure by the age of 2 years. Hearing loss was not apparent in...

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