Fig. 2

Clinical and radiological findings of two patients affected by pycnodysostosis. a–b The typical facial appearance of the pycnodysostosis (large frontal, midfacial hypoplasia, low set ears, and beaked nose), here observed in the patient 27. c–d Cranial X-rays of patient 27 showing increased bone density, opened sutures, parietal bossing and obtuse mandibular angle. e The hands of patient 27 showing brachydactyly. f X-rays of the hands of the patient 2 showing increased bone density, brachydactyly and acroosteolysis of the distal phalanges, mainly observed in both second fingers