Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Fiche publication

Date publication

juin 2025

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine , Pr FAIVRE Laurence , Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Bouhatous YM, Arnaud P, Jondeau G, Bonneau D, Rouleau F, Plessis G, Vincent A, Labombarda F, Maragnes P, Delanne J, Muller M, Coubes C, Bredy C, Gouya L, Odent S, Basquin A, Dupuis-Girod S, Barthelet M, Ginglinger E, Delobel B, Vaksmann G, Alessandri JL, Arsac LA, Thomas E, Julia S, Chesneau B, Dulac Y, Callewaert B, Loeys B, Vaerle M, Menke LA, Groenink M, Ades L, Ballesta-Martinez MJ, Shanske AL, Tinschert S, Gehle P, Thauvin-Robinet C, Eicher JC, Falcon-Eicher S, Boileau C, Binquet C, Hanna N, Faivre L

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40562530

Résumé

Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.