ANESTHETIC MANAGEMENT IN A PATIENT WITH CORNELIA DE LANGE SYNDROME

Cornelia de Lange syndrome (CdLS), also known as Brachmann−de Lange syndrome, is a syndrome of multiple congenital anomalies of variable severity. This rare syndrome is genetically heterogeneous and sporadic, with an estimated prevalence of 1 in 10,000 to 30,000. First described by Cornelia de Lange as a diagnostic entity in 1933, Vrolik and Brachmann reported isolated cases in severely affected infants between 1849 and 1916. The syndrome is best characterized by distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, and upper limb malformations. Although almost all organ systems can be affected, individuals with CdLS most notably display deficits in the development of neurosensory, craniofacial, musculoskeletal, cardiac and gastrointestinal systems. There is no known cure but the syndrome can be managed by treating associated clinical symptoms. Sixty six percent of CdLS individuals die before the first year of life. Mortality occurs primarily from aspiration in infancy and from infection and bowel obstruction there after.