Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study

Aurore Le Quellec (1) , Thomas Edouard (2) , Séverine Audebert-Bellanger (3) , Antoine Pouzet (3) , Karine Bourdet (4) , Cindy Colson (5) , Charlotte Oriot (6, 7) , Sylvaine Poignant (7) , Alain Saraux (1, 8) , Valérie Devauchelle-Pensec (1, 8) , Aurore Le Quellec (1)

1 CHU - BREST - Rhumato - CHRU Brest - Service de Rhumatologie
2 Service Endocrinologie, génétique et gynécologie médicale pédiatrique [CHU Toulouse]
3 Département de génétique médicale en pédiatrie [CHRU Brest]
4 CHU BREST Pédiatrie - CHRU de Brest - Département de Pédiatrie
5 CHU Caen
6 Département de pédiatrie [CHU Nantes]
7 Département de génétique médicale en pédiatrie [CHRU Nantes]
8 LBAI - Lymphocytes B, Autoimmunité et Immunothérapies

Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. Despite potentially serious functional consequences, joint involvement has been rarely studied in the literature. Our objective was to perform a retrospective study evaluating the prevalence and characteristics of joint involvement in Noonan syndrome.

Mots clés: Central giant cell granuloma; Joint involvement; Noonan Syndrome; Pigmented villonodular synovitis; RASopathy

Domaines: Immunologie

Aurore Le Quellec, Thomas Edouard, Séverine Audebert-Bellanger, Antoine Pouzet, Karine Bourdet, et al.. Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study. Joint Bone Spine, 2022, 89 (1), pp.105270. ⟨10.1016/j.jbspin.2021.105270⟩. ⟨hal-03364196⟩