Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters - 21/06/23
Doi : 10.1016/j.jbspin.2023.105547
Marlene Sousa a, ⁎ 
, Ana Rita Prata a, Ana Isabel Maduro a, Sérgio B. Sousa b, c, Armando Malcata a, c
, Ana Rita Prata a, Ana Isabel Maduro a, Sérgio B. Sousa b, c, Armando Malcata a, c a Rheumatology Unit, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal
b Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602 Coimbra, Portugal
c Faculty of Medicine, University of Coimbra, Coimbra, Portugal
⁎Corresponding author.
Highlights |
• | Pycnodysostosis is a rare inherited lysosomal storage disorder having a typical phenotype. |
• | Most clinical manifestations are evident from an early age, but some patients may reach adulthood without a diagnosis. |
• | This case highlights the importance of considering Pycnodysostosis and other congenital rare osteopathies even in adult patients. |
Keywords : Pycnodysostosis, CTSK gene, Bone disorder
Plan
© 2023
Société française de rhumatologie. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 90 - N° 4
Article 105547- juillet 2023 Retour au numéro
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