Le syndrome de KABUKI (A propos de 06 cas et revue de la littérature)

Kabuki syndrome, also known as Niikawa-Kuroki syndrome, is a rare genetic disorder which was first described in 1981. The condition was named Kabuki syndrome, referring to the resemblance of the patient’s characteristic ficial expreression with that of the makeup used in Kabuki ,a traditional Japanese theater. This syndrome has been reported in almost all ethnic groups. Most cases have been reported sporadically, however familial cases are described showing evidence that Kabuki syndrome is inherited as a dominant trait. Advanced paternal age is the main risk factor for this pathology which affects males and females equally. Numerous mutations have been identified in patients with Kabuki syndrome. Even though the major causative gene (MLL2) has been found, the research is not yet over. Other gene mutations are still being looked for.The diagnosis is established by clinical findings which are mental retardation and craniofacial dysmorphic features.Kabuki syndrome is difficult to diagnose for two main reasons: clinical heterogeneity and several differential diagnosis.There is a wide range of malformations and complications associated with this syndrome, justifying diagnostic tests. The prognosis depends on it. Management is multidisciplinary and symptomatic only. New treatment perspectives of mental retardation could be a basis of future therapeutic strategy

Référence922
Année2015
TypeThèse
Lien document
AuteurAlami marktani A
DisciplinePédiatrie
EncadrantChaouki S