Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It ...

This study examines the developmental history of 32 Williams syndrome patients, positive to the fluorescence in situ hybridization (FISH) test. The information is intended to provide help for early diagnosis and appropriate ...