#bohringopitz

Rare Disease Day 2022

Elaney’s Story

Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our…

A star is born

Today the first impressions by Bas Driessen Fotography of the premier KULUUT are released. Simply the best of this memorable day: the film’s protagonist Coen was even present. Being at the premier of KULUUT was emotional, touching and so special. KULUUT is honest, warm and lovingly and yes, words are failing me to describe this wonderful documentary of Charlotte Driessen about the family of Coen…

A boy from Lybie

Nearly all medical publications about Bohring-Opitz Syndrome (BOS) come from Europe and the United States of America. This case report is from Lybie and documents a boy with BOS. Although this patient did not have the physical BOS characteristics (upper limb deformities or radial dislocation, ulnar deviation of the hands, and prominent eyes that appear as exophthalmos), the heterozygous…