Pycnodysostosis: Clinical Insights From Two Siblings

Abstract

Pycnodysostosis is a rare autosomal recessive bone disorder caused by mutations in the cathepsin K (CTSK) gene, characterized by increased bone density, short stature, and skeletal fragility. This study reports on two siblings from a consanguineous marriage, observed at the Mohammed VI University Hospital in Oujda, Morocco. Both patients presented with typical symptoms, including craniofacial dysmorphism and skeletal abnormalities. Radiographic findings confirmed increased bone density and acro-osteolysis. The cases highlight the importance of early and accurate diagnosis, comprehensive management to address the broad spectrum of clinical manifestations, and genetic counseling to inform family planning and manage the risk of recurrence in familial pycnodysostosis.