A boy from Libya

Nearly all medical publications about Bohring-Opitz Syndrome (BOS) come from Europe and the United States of America. This case report by Yousef Assaleh is from Libya 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 pathogenic mutation in ASXL1 gene was found in this patient. This emphasizes the need for further delineation of the BOS physical features or it suggests that this case may be new variant of the BOS syndrome.

Read here the case report.