Internationella diagnoskriterier för att fastställa diagnosen Beckwith-Wiedemanns syndrom
Clinical features of Beckwith–Wiedemann spectrum
Cardinal features (2 points per feature)
Suggestive features (1 point per feature)
For a clinical diagnosis of classical Beckwith–Wiedemann syndrome (BWS), a patient requires a score of ≥4 (this clinical diagnosis does not require the molecular confirmation of an 11p15 anomaly). Patients with a score of ≥2 (including those with classical BWS with a score of ≥4) merit genetic testing for investigation and diagnosis of BWS. Patients with a score of <2 do not meet the criteria for genetic testing. Patients with a score of ≥2 with negative genetic testing should be considered for an alternative diagnosis and/or referral to a BWS expert for further evaluation. BWSp, Beckwith–Wiedemann spectrum; SDS, standard deviation scores.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB et al. Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nat Rev Endocrinol 2018; 14: 229-249.