Abstract
Introduction: Mowat-Wilson syndrome (MWS) is a very infrequent congenital polimalformative disorder, caused by mutations, deletions or insertions of the ZEB2 gene, which codify for a protein that is involved in the migration of the neural crest cells and the development of middle line structures. The inheritance pattern is autosomal dominant, haplo-insufficient.
Objectives: To describe a case of Mowat-Wilson syndrome with typical phenotype.
Clinical Case: 8 year-old female, with special facie, hard to control seizures, ductus arteriosus, left pulmonary artery stenosis, constipation, severe retardation of psychomotor development and speech retardation. Differential diagnosis of Mowat Wilson syndrome is proposed.
Conclusion: Mowat and Wilson syndrome is very rare not well-known; therefore it is important to communicate its features within the pediatric community. In this syndrome multiple organs and systems are involved, so a multidisciplinary approach is mandatory; in order to the objective of adequately intervening in the pathology of each patient, provide adequate information regarding the developmental expectations for the child and genetic and reproductive counseling to the parents.
Los contenidos publicados en esta revista están protegidos bajo una Licencia Creative Commons Atribución 4.0 Internacional (CC BY 4.0). Esto significa que cualquier persona es libre de compartir, usar y construir a partir de este artículo, incluso con fines comerciales, siempre que se otorgue el crédito apropiado al autor original, se proporcione un enlace a la licencia, se indique el nombre y edición de la Revista.
Esta licencia no impone restricciones adicionales, lo que garantiza la libre circulación y reutilización del conocimiento con respeto y transparencia hacia los derechos de los autores. (Véase El efecto del acceso abierto).