Marie Adamo-Croux, Adriane Auger-Gilli, Gwenaël Le Guyader, Juliette Aubin-Courjault, Henri Margot, Claire Bar, Didier Lacombe, Julien Van-Gils, Marine Legendre, Aurélien Binet, Xavier Le Guillou Horn
INTRODUCTION: KBG syndrome is an autosomal dominant, polymalformative genetic syndrome that is mainly associated with neurodevelopmental and learning disorders, intellectual disability, behavioral disorders, and epilepsy as well as characteristic dysmorphic features, short stature, and ENT (ear, nose, and throat) abnormalities. However, the diagnostic pathway of these individuals is an element that has not been broadly evaluated. The main aim of this study was therefore to characterize the diagnostic pathway for these individuals, by assessing the different healthcare professionals involved and the main referral elements...
May 7, 2024: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie