PT  - JOURNAL ARTICLE
AU  - Mazeda, Caroline
AU  - Azevedo, Sofia
AU  - Sousa, Sérgio
AU  - Barcelos, Anabela
TI  - Not Everything is Osteoporosis: Multiple Low-Impact Fractures in an Adult Female Patient
AID  - 10.3899/jrheum.2024-0672
DP  - 2025 Feb 01
TA  - The Journal of Rheumatology
PG  - jrheum.2024-0672
4099  - http://www.jrheum.org/content/early/2025/01/26/jrheum.2024-0672.short
4100  - http://www.jrheum.org/content/early/2025/01/26/jrheum.2024-0672.full
AB  - Pycnodysostosis is a subtype of osteopetrosis resulting from mutations in the cathepsin K gene (CTSK) on chromosome 1q21.1,2 We report the case of a 47-year-old White female patient attending a rheumatology clinic with a history of multiple low-impact fractures in adulthood, including left and right subtrochanteric fractures and tibial shaft fractures at the ages of 46, 40, 31, and 22 years, respectively.