Acromicric dysplasia and geleophysic dysplasia are both forms of acromelic dysplasia.  Several causative genes have been identified for the acromelic dysplasias, all of which affect TGF-β signalling and/or interactions with fibrillin.  Here, we have used massive parallel sequencing to identify a dominant mutation in latent TGF-β binding protein-3 (LTBP3) in a family with acromicric dysplasia, and de novo mutations in LTBP3 causing geleophysic dysplasia in two separate unrelated individuals. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum. (By Aideen McInerney-Leo, http://jmg.bmj.com/content/early/2016/04/11/jmedgenet-2015-103647 )