Información adicional

• Num_publicacion 77(1-2)
• Resumen_ingles

  The Kleefstra syndrome is characterized by a peculiar facies, intelectual deficit and severe delay in the oral expression. Other anomalies that may occur are cardiac, hearing, genital defects in men, epilepsy, severe respiratory infections, overweight and behavioral abnormalities. It’s a rare genetic disorder caused by mutations in the eucromatic histone-lysine-N-methyltransferase 1 (EHMT1) or a chromosome microdeletion 9q34.3 (in 75% of the cases). This gene encodes an enzyme that modifies the function of histone, essential for normal development. We present the case of a child with hypotonia, psychomotor retardation, absence of speech and peculiar facies, whose diagnosis was obtained due to the new techniques in molecular genetics.

• Palabras_clave_ingles Kleefstra syndrome Psychomotor retardation
• Todos_autores M. González Herrero¹, J. Toledano Bueno², J.A. Fernández Ramos³
• autores listados M. González Herrero, J. Toledano Bueno, J.A. Fernández Ramos
• Correspondecia
  M. González Herrero. UGC Levante Sur.  Avda. Menéndez Pidal, s/n. Hospital Materno-Infantil Reina Sofía. 14004 Córdoba.
  Correo electrónico: miriamgon@telefonica.net
   
• Titulo_ingles Kleefstra syndrome. Importance of genetic study
• Centros_trabajo ^1,2Pediatras EBAP. Unidad de Gestión Clínica Levante Sur. ³FEA Neurología Pediátrica. Hospital Materno-Infantil Reina Sofía. Córdoba
• Publicado en Acta Pediatr Esp. 2019; 77(1-2): e31-e34
• copyright ©2019 Ediciones Mayo, S.A.
• Fecha recepcion 28/08/17
• Fecha aceptacion 12/01/18
• Tipo de Artículo Clínico (Microdatos) Case Reports