KCNQ1OT1 and Beckwith-Wiedemann syndrome: Patient 1 shows a partial loss of methylation in KCNQ1OT1 in spite of the absence of the typical features of Beckwith-Wiedemann syndrome, such as abdominal wall defects, macroglossia, hemihypertrophy, and coarse facial features; conversely he presents a Sotos-like syndrome, with the characteristic facial gestalt (downslanting palpebral fissures and pointed chin), neonatal hypotonia, large hands, or cardiac anomalies.