Fig. 2

Clinical and radiographic images of affected proband (a-g) and carrier mother (h-j) from Family 1. (a) Note the bilateral gynecomastia and mild dysmorphism with short philtrum, short palpebral fissures, and anteverted pinnae (b) Close-up view of eyes showing bilateral rotatory nystagmus, strabismus on the left eye, and heterochromia. (c-e) Intraoral images at 15 years old demonstrating Hutchinson incisors, bud-shaped molars, talon cusps in maxillary and mandibular incisors, and localized hypomineralised areas of enamel in the incisal edges and cusp tips. (f) Panoramic radiograph at 15 years old (g) Panoramic radiograph at 10 years old showing the supernumerary teeth in anterior maxilla and mandible. (h-i) Facial and eye close-up view of mother. Note the partial heterochromia of both eyes. (j) Intraoral image shows tapered maxillary central incisors and increased translucency of enamel in nearly half of the incisors’ crowns