Fiche publication
Date publication
juin 2025
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Vegas N, Rio M, Adnot P, Soupre V, Petit F, Ghoumid J, Toutain A, Dieterich K, Marey I, Gilbert-Dussardier B, Le Guyader G, Francannet C, Schaefer E, Perrin L, Nizon M, Beneteau C, Genevieve D, Willems M, Faivre L, Grimaldi M, Melki J, Stoeva R, Putoux A, Pons L, Benistan K, Amiel J, Abadie V
Lien Pubmed
Résumé
SATB2-associated syndrome (SAS) results from various mutations of the SATB2 gene and associates a neurodevelopmental disorder including major speech delay, intellectual disability, and behavioral problems with dental anomalies, sometimes a cleft palate, risk of osteoporosis, and facial dysmorphism. The principal objective of this study was to describe the oral phenotype of young children with SATB2-associated syndrome, especially in terms of orofacial malformation of Robin Sequence (RS) spectrum (bifid uvula, cleft palate, or RS, dental malformation, feeding and communication, with data from a national cohort. The secondary objective was to determine whether feeding and communication disorders were more severe when associated with an orofacial malformation of RS spectrum.
Mots clés
Psychomotor delay, Robin sequence, SATB2 syndrome, Speech delay
Référence
Orphanet J Rare Dis. 2025 06 5;20(1):278
