RARE Publications

Today is Rare Disease Day. Today is 28 February, Rare Disease Day!  The rarest day of the year, dedicated to raising awareness for people living with a rare disease.  Bohring-Opitz Syndrome (BOS) is a ultra-rare condition with only a few handful of cases worldwide in the beginning. Prior to 2011 the diagnosis relied mainly on recognizing the distinguishable…

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RDD 2020 BOS video

It’s #RareDiseaseDay! Anna Doggett, Contracts Administrator of Quanticate, shares how her family has been impacted by Bohring-Opitz Syndrome, a #RareDisease with only 200 diagnosis worldwide. Thank you so much, Anna and Quanticate for this amazing video about Bohring-Opitz Syndrome. Below you find her speech written. “Hello, I’m Anna and I work at Quanticate! Today we…

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BOS and monogenic obesity

In Case Report “The tale of two genes: from next-generation sequencing to phenotype” an 18-year-old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 – Bohring-Opitz Syndrome. In addition, a maternally inherited and likely pathogenic variant in the MC4R…

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Infant Massage Techniques

Published by Oxford University Press the doctors B Herd, J Chiang, M Patterson, V Regueiro concluded in their recent article “The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome” that infant massage can offer initial support and they suggest that further research is needed to integrate infant massage into the…

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Last minute project

Here our last minute project for our awesome Bohring-Opitz Dads: A Jumping BOS. Just download the printable Bohring-Opitz Syndrome Jumping BOS Dad, cut and assemble. Happy Father’s Day! Do you have a Bohring-Opitz Super Hero? Download here your printable “Bohring-Opitz Super Hero Jumping Jack”. Do you like it? We really appreciate your consideration to make…

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