Clinical Characteristics

Athabascan brainstem dysgenesis syndrome (ABDS) and Bosley-Salih-Alorainy syndrome (BSAS) are mainly characterized by:
•    Ocular motility disorder (horizontal gaze palsy/Duane anomaly).
•    Sensorineural deafness
•    Variable cerebrovascular malformations, and
•    Motor developmental delay.
The patients of ABDS differ from BSAS by the presence of central hypoventilation and intellectual disability. Congenital heart diseases (CHD)(commonly conotruncal) are  seen in majority of patients of ABDS, while CHD are variable clinical features of BSAS.