Información adicional

• Num_publicacion 77(1-2)
• Resumen_ingles

  Sheldon-Hall syndrome is a rare disease, which belongs to the group of distal arthrogryposis that shows distal joint contractures without primary neurological or muscular involvement. It has an autosomal dominant inheritance pattern, with several genes implicated in its etiopathogeny, although a genetic alteration has been demonstrated only in half of the affected patients. We present a case of this rare disease with neonatal diagnosis in a patient with no family history, in which we could demonstrate a genetic de novo pathogenic variant in TNNT3 gene. We also describe the phenotypic characteristics of this syndrome as well as the diagnosis, management and prognosis of these patients in the long term.

• Palabras_clave_ingles Sheldon Hall syndrome Newborn Arthrogryposis Distal arthrogryposis Distal arthrogryposis type 2B TNNT3 gene
• Todos_autores R. Ortiz Movilla¹, R. Cazorla Calleja²
• autores listados R. Ortiz Movilla, R. Cazorla Calleja
• Correspondecia
  R. Ortiz Movilla. Servicio de Pediatría. Unidad de Neonatología. Hospital Universitario Puerta de Hierro-Majadahonda. Manuel de Falla, 1. 28222 Majadahonda (Madrid).
  Correo electrónico: rortizmovilla@gmail.com
   
• Titulo_ingles Sheldon-Hall syndrome. Findings in the neonatal period
• Centros_trabajo ¹Unidad de Neonatología. ²Unidad de Neurología Infantil. Servicio de Pediatría. Hospital Universitario Puerta de Hierro-Majadahonda (Madrid)
• Publicado en Acta Pediatr Esp. 2019; 77(1-2): e35-e38
• copyright ©2019 Ediciones Mayo, S.A.
• Fecha recepcion 2/05/17
• Fecha aceptacion 20/01/18
• Tipo de Artículo Clínico (Microdatos) Case Reports