Clinical Trial: French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

Study Status: Completed
Recruit Status: Completed
Study Type: Observational




Official Title: French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

Brief Summary:

Create a census for the duration of the search for French patients with SK

  • determining epidemiological and morphological parameters,
  • determine the true frequency of clinical symptoms and identify new ones,
  • identify complications of the disease to improve the care of patients in the hope of a better prognosis of the disease and
  • performing a radiological study by Voxel based morphometry MRI type (N. BODDAERT, HOPITAL Necker-Enfants Malades, Paris)

Perform genetic research to identify the genetic bases of SK using CGH-array (Comparative Genomic Hybridization )