Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de México Federico Gómez (2007 to 2012)

Results. Among the clinical characteristics identified in this study were preterm birth (33%), nevus flammeus (47%), macroglossia (89%), medial facial hypoplasia (68%), hemihyperplasia (36.8%) and abdominal wall defects (68%). No embryonic tumor or cardiopathies were identified. A familiar case was described. Conclusions. Clinical follow-up of BWS patients should be strict and include the participation of the medical team and the patient’s family. In order to offer genetic counseling, molecular diagnosis should ideally be provided due to the heterogeneity of the etiology of BWS.