Información adicional

• Num_publicacion 74(7)
• Resumen_ingles
  Introduction: Cleidocraneal dysostosis is a rare autosomal dominant skeletal dysplasia in which the clavicles are typically affected. Mutations of the CBFA1/RUNX2 genes cause this disease.
  Objective: Report of two familial cases of cleidocranial dysostosis with different clinical expressivity.
  Methods: A clinical and radiographic study of two individuals with cleidocranial dysostosis in the same family is described. 
  Results: Aplasia or hypoplasia of the clavicles was present in both patients, who also showed lack of fusion of the symphysis pubis and the posterior arches of different cervical, thoracic and lumbar vertebrae. Both individuals presented dysmorphic facial features including broad forehead, hypertelorism and strabismus. 
  Conclusions: The diagnosis of cleidocranial dysostosis was based on clinical and radiographic findings and can be confirmed by genetic analysis. It is important to study the whole family to search for more affected individuals.
   
• Palabras_clave_ingles Cleidocranial dysostosis Skeletal dysplasia Clavicular hypoplasia
• Todos_autores S. Galbis Soto, P. Bahillo Curieses, M.C. Mombiedro Arizmendi, S. Rellán Rodríguez, V. Matías del Pozo, M.J. Martínez Sopena
• autores listados S. Galbis Soto, P. Bahillo Curieses, M.C. Mombiedro Arizmendi, S. Rellán Rodríguez, V. Matías del Pozo, M.J. Martínez Sopena
• Correspondecia
  S. Galbis Soto. Departamento de Pediatría. Hospital Clínico Universitario. Avda. Ramón y Cajal, 3. 47005 Valladolid.
  Correo electrónico: sofy_gs@hotmail.com
• Titulo_ingles Cleidocranial dysostosis, little known and variable expressivity
• Centros_trabajo Servicio de Pediatría. Endocrinología Pediátrica. Hospital Clínico Universitario de Valladolid
• Publicado en Acta Pediatr Esp. 2016; 74(7): e167-e174
• copyright ©2016 Ediciones Mayo, S.A.
• Fecha recepcion 5/06/15
• Fecha aceptacion 3/12/15
• Tipo de Artículo Clínico (Microdatos) Case Reports