• Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. (nih.gov)
  • Conclusion: Sleep related breathing disorders are frequent in pycnodysostosis and although PQ16 can be used to screen, polysomnography should be offered to all patients with pycnodysostosis. (eurospe.org)
  • Conclusion: Patients with pycnodysostosis need special dental care in order to avoid tooth extraction and bone complications. (jomos.org)
  • The diagnosis of pycnodysostosis can be established in a proband with characteristic clinical and radiographic features and/or biallelic pathogenic variants in CTSK identified by molecular genetic testing . (nih.gov)
  • Pycnodysostosis should be suspected in probands with the following clinical, radiographic, and laboratory findings. (nih.gov)
  • Two clinical cases of pycnodysostosis with typical maxillofacial complications are presented. (jomos.org)
  • Formal diagnostic criteria for pycnodysostosis have not been established, however the radiographic features of acroosteolysis, osteosclerosis, and loss of the normal angle of the jaw are almost pathognomonic. (nih.gov)
  • We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features. (bvsalud.org)