Clinical characterization, genetic screening and genotype-phenotype associations in cerebellar and brainstem congenital defects

Abstract

Cerebellar and brainstem congenital defects (CBCDs) represent a wide spectrum of malformative disorders resulting from abnormal development of midbrain-hindbrain and characterised by high clinical and genetic heterogeneity. Due to the uncommonness of these conditions and the substantial under-recognition on brain imaging studies, limited information is available on their prevalence, genetic causes, natural history, and genotype-phenotype associations. Such a contingency of factors leads to uncertain prognosis and wrong counselling. .. [edited by the Author]