The Clinical Rehabilitation and Cathepsin K Gene Analysis of a Turkish Family With Pycnodysostosis

Pycnodysostosis (PKND) is a rare, autosomal recessive disease characterized by short stature, severe bone fragility exophthalmus and oral manifestations such as micrognathia. It usually demonstrates typical craniofacial deformities, such as hypoplastic midface, anterior cross-bite, grooved palate and dental crowding. The aim of this case report is to report the rehabilitation and analyze the cathepsin K for pycnodysostosis under reported cases of three siblings with PKND. A family with 5 siblings, 3 effected and 2 non – effected, were examined clinically and radiologically, and restorative treatments and protective applications were carried out in the effected members. To clarify the underlying reason, cathepsin K was amplified and sequenced directly by using specific primers. All the affected members carried L7P variation as homozygous state, whereas unaffected had the heterozygous state of the same condition. Early diagnosis and treatment is important with PKND patients, since bone fractures easily occur during dental treatment and limited mouth opening makes it difficult to access the treated area. Frequent recalls should be planned for PKND patients. Regular oral care and early preventive treatments ensure the patients a better life quality. Also, we suggest that L7P variation of cathepsin K may be a diagnostic criterion for PKND