The first two known cases of Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) were described in 1972 by Gifford et al.,1 but it was not until 1981 when Bosma et al.2 published two more cases and gave the syndrome its name. Since then, several authors have shared their cases. In 2016, Brasseur et al.3 carried out a review with up to 14 possible cases in relation to the syndrome. The different authors who have been incorporating cases into the literature have searched genes related to ocular development, such as PAX6,4 trying to find a causing mutation. Recently mutations in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) have been described as possible causes of the syndrome.

In this article, we describe a case of BAMS seen in our centre and update the current genetic evidence.