ABSTRACT
Introducción. El síndrome de Beckwith-Wiedemann presenta una frecuencia de 1:13,700 recién nacidos. Se caracteriza por una triada clásica de macrosomía, macroglosia y defectos de la pared abdominal. Es originado por la alteración de diversos mecanismos genéticos y epigenéticos en la expresión de varios genes improntados en el locus 11p15. Métodos. En este estudio se analizó el perfil clínico de una cohorte de pacientes con síndrome de Beckwith-Wiedemann atendidos en el Hospital Infantil de México Federico Gómez en los últimos 6 años. Se analizaron 19 pacientes con criterios clínicos para síndrome de Beckwith-Wiedemann. Resultados. Algunas de las características clínicas identificadas fueron prematurez (33%), nevus flameus (47%), macroglosia (89%), hipoplasia media facial (68%), hemihiperplasia (36.8%) y defectos de pared abdominal (68%). No se diagnosticaron tumores embrionarios ni cardiopatías. Se identificó un caso familiar. Conclusiones. La vigilancia de los pacientes con síndrome de Beckwith-Wiedemann debe ser estrecha, un compromiso de la familia y del equipo médico tratante. Para poder otorgar un asesoramiento genético integral, idealmente se debe contar con un diagnóstico molecular dada la heterogeneidad en la etiología del síndrome de Beckwith-Wiedemann.
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.