Синдром Корнелии де Ланге: клиника, диагностика, лечение (случай из практики)

Th e article is devoted to rare syndrome of uncertain course of succession. Describes the etiology, phenotypic characteristics, symptoms, based on which a pediatrician and geneticist may suspect the Amsterdam dwarfi sm. Principles of treatment summarize the general. Clinical observation of the child R. 16 years old with multiple organ failure was conducted.