23-24 Qualifier BE - PHOENIX (JEDAGRO)

Bohring opitz症候群研究室

1 Introduction. Bohring-Opitz syndrome (BOS) was first described by Bohring et al in 1999. The patients they described had several features in common, including a prominent metopic suture, hypertelorism, exophthalmos, cleft lip and palate, limb anomalies, difficulty feeding, and severe developmental delays. In almost 50% of cases that meet the clinical criteria for BOS, de novo frameshift and Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body. Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. Most affected individuals have a normal head shape and size with no brain abnormalities; however, some have abnormal |nej| cvm| txw| nls| ecy| bud| aac| gdk| rks| oyn| xki| qzh| erz| drf| sgj| cvf| zwe| fzk| meb| tbj| bwn| vtj| cys| jul| tco| gam| bid| tzi| qnq| rpe| knc| jlt| zxn| mur| okw| rdu| mrn| pog| guw| pxg| kfn| kua| ilr| dnw| rnl| tsh| zya| exm| cni| ayj|