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Article

Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.

International journal of molecular sciences - 4 Dec 2024

Zhalsanova Irina Zhargalovna, Fonova Elizaveta Alekseevna, Valiakhmetov Nail Raushanovich, Kolesnikov Nikita Aleksandrovich, Gosudarkina Sofia Nikolaevna, Agafonova Anna Aleksandrovna, Ravzhaeva Ekaterina Georgievna, Seitova Gulnara Narimanovna, Stepanov Vadim Anatolyevich, Skryabin Nikolay Alekseevich

Abstract excerpt

Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and...

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PMID: 39684735
DOI: 10.3390/ijms252313025
PMCID: PMC11640908

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