Abstract

MORENO-SALGADO, Rodrigo et al. Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de México Federico Gómez (2007 to 2012). Bol. Med. Hosp. Infant. Mex. [online]. 2013, vol.70, n.2, pp.166-173. ISSN 1665-1146.

Background. Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) has an incidence of 1:13,700 newborns. Patients characteristically suffer from overgrowth, macroglossia and abdominal wall defects. BWS has diverse etiologies with several genetic and epigenetic mechanisms related to imprinted gene expression in 11p15 being involved. Methods. The clinical profile of a cohort of BWS patients who were treated at the Hospital Infantil de Mexico Federico Gomez during the last 6 years was analyzed. A total of 19 patients with diagnostic criteria for BWS were included. Results. Among the clinical characteristics identified in this study were preterm birth (33%), nevus flameus (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.

Keywords : Beckwith-Wiedemann syndrome; epigenetics; overgrowth.