Introduction:
Deletion of the 4q chromosome is a rare chromosomal deletion syndrome estimated to occur in about 1 out of every 100,000 births.1 The effects of this deletion present with various clinical phenotypes2, such as congenital heart defects, craniofacial dysmorphic features, and developmental delay1. The gravity of physical characteristics is dependent on the amount and the site of chromatin that is missing. Most patients pass away before two years of age or, if they survive, are confronted with both social and physical barriers.3With specific reference to anesthesia, patients with this syndrome have inconsistently been reported to have laryngeal narrowing, raising the concern for intubation difficulties.4,5 Due to the rarity of this syndrome and the myriad of clinical presentations, few guidelines are found for the induction of anesthesia in a patient with this syndrome.
In this report, we describe the anesthetic management of a patient with known chromosome abnormality of 46 XY, del(4)q34.1 - q35.2 and associated dysmorphic appearance, including micrognathia. Craniofacial abnormalities are of consideration in the selection of tracheal tube sizes and may result in difficult intubation. These same abnormalities can be severe, to the point in which patients require long-term tracheostomy or plastic/orthopedic surgery for jaw reconstruction.6 In this report, we discuss the management of anesthesia, utilization of a quadratus lumborum plexus block, and provide images of the characteristic craniofacial abnormalities observed in Chromosome 4q Deletion Syndrome (4QDS). To our knowledge, no case to date has reported on the anesthetic management of pediatric patients with 4QDS, including nerve block procedures. Additionally, few resources in the literature exist that show clear images of the characteristic appearance of patients with 4QDS or document their intubation.