When I read Annessia’s story I felt overwhelmed, I went through a mix of emotions: resentment and fear but also hope, pride, admiration, love and joy. On 9/9/2015 Annessia was diagnosed with Bohring-Opitz syndrome. Please meet this strong and lovely princess. Many thanks to Annessia’s parents for sharing her story! You can read this new family…
Read MoreHere at BOS headquarters and at our support group, we are often asked about the best ways to care for children with BOS. Because every BOS child is unique and we don’t really like the idea of giving out “instructions” but we have written this information document “Living with Bohring-Opitz Syndrome” to provide guidance to…
Read MoreRussell et al. (p. 2122, DOI: 10.1002/ajmg.a.37131) suggests certain patients with Bohring–Opitz syndrome (BOS) should be monitored for Wilms tumors. In her recent publication on Bohring-Opitz Syndrome two of the eight new patients with ASXL1 mutations were diagnosed with bilateral Wilms tumor. Mutations in ASXL1 gene cause Bohring-Opitz Syndrome. Read here the article: The AMJG sequence:…
Read MoreWhy this name? Why has the Bohring-Opitz Syndrome support group on Facebook the name https://www.facebook.com/groups/okketje/? “Okketje” is a term of endearment and means wee Okke. 2007 Okke, a little boy from The Netherlands was born with Bohring-Opitz Syndrome (BOS). When he got this diagnosis, just three weeks after his birth, there were only 20 children…
Read MoreInfographie de le Syndrome de Bohring-Opitz est maintenant aussi en Français !
Read MoreAnche la Sindrome di Bohring-Opitz ha la sua locandina in lingua italiana. BOS infografica italiana pdf
Read More
Bohring-Opitz Syndrome has his own infographic!By following the link https://bohring-opitz.org/bos-infographic/ you can download the infographic also as jpeg and in different languages. We thank all the parents and friends of the children with Bohring-Opitz syndrome by helping us to make the BOS infographic available in multiple languages!
Read MoreHilary Vernon referred (post filed under Part 04: CANCER on OMMBIDBLOG ) to the recently published study on Bohring-Opitz syndrome (BOS) by Bianca Russell and colleagues and pointed out the risk of Wilms tumor in patients with BOS. Read here the article.
Read More
Bohring-Opitz Syndrome/ASXL1 