Figure 1.

Facial characteristics of VMS. (a) patient 1 (b) patient 2 (c) patient 3 (d) patient 4 and (e) patient 5 (f) patient 6. The faces are characterised by blepharophimosis, telecanthus, a broad nasal bridge, flat facial profile (maxillary hypoplasia) and a progressive thickening of the alae nasi. Three subjects (patients 1, 2 and 5) required a tracheostomy due to airway collapse. (g–l) auricular anomalies in VMS. (g) patient 1; (h) and (i) patient 2; (j) patient 3; (k) patient 5 and (l) patient 6. There is microtia with thickening sometimes cystic of the crura and superior and inferior helical folds and atresia of the external auditory meatus with mixed conductive and sensorineural hearing loss.