Cornelia de Lange Syndrome and General Anesthesia for Dental Treatment: A Case Report.

Abstract

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with a wide variation of presentations affecting several organ systems. Most patients with CdLS have a mutation of the NIPBL (Nipped-B-like protein) gene responsible for making delangin, a protein important in human development. Patients with CdLS typically present with intellectual disability, growth delay, cleft palate, and extremely limited mouth opening. These findings can complicate induction of general anesthesia, airway management, and intubation. Treatment of CdLS is based on clinical presentation and includes pharmacologic, therapeutic, and surgical intervention. Cleft palate repair is common in these patients which may impact the anesthetic plan. Additionally, the anesthesiologist should be aware of associated cardiovascular anomalies, ranging from innocent murmurs to persistent structural defects and leading to increased morbidity and mortality in these patients. This case report discusses CdLS and its implications on the general anesthetic management of a 37-year-old woman undergoing treatment for dental caries in an ambulatory care setting. Although CdLS is a rare genetic disorder, anesthesiologists treating such patients with special needs should be familiar with its presentation and anesthetic considerations.