Nasal polyposis in a pediatric patient with lange cornelia syndrome

Abstract

Cornelia de Lange syndrome is a multiple congenital malformation disorder, caused by different types of genetic mutation, and is characterized for distinctive facial phenotype, arms abnormalities and growth and psychomotor retardation. Upper airway compromise is also frecuent, and is generally es manifested through nasal polyposis. This entity is not frequently seen, and although the genetic disturbance is in most cases spontaneous, it can be also transmitted in autosomal dominant way. It represents a diagnostic and therapeutic challenge for the doctor in charge, because of the many disturbances and difficult management. In this paper, we present a case report with nasal polyposis successfully treated endoscopically, with neuronavegador and microdebrider assistance, in a patient with diagnosis of Cornelia de Lange syndrome, and we describe the main features of this disease