Article
A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.
Scientific reports - 24 Feb 2022
Locatelli Chiara, Onnivello Sara, Gori Caterina, Ramacieri Giuseppe, Pulina Francesca, Marcolin Chiara, Vianello Renzo, Vione Beatrice, Caracausi Maria, Pelleri Maria Chiara, Vitale Lorenza, Pirazzoli Gian Luca, Cocchi Guido, Corvaglia Luigi, Strippoli Pierluigi, Antonaros Francesca, Piovesan Allison, Lanfranchi Silvia
Abstract excerpt
Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical diagnosis of DS; the utility of these checklists in improving the accuracy of clinical diagnosis has been recently reaffirmed, but they have rarely been revised. The purpose of this work is to reassess the...
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