Chromosomal Abnormalities and Other Common Pediatric Syndromes

Abstract

Abstract A syndrome is an association of phenotypical traits that occur together due to a specific genetic abnormality. Diagnosis of genetic disorders is usually done through karyotyping, chromosomal microarray (CMA), or fluorescence in situ hybridization (FISH). Due to medical advancements in the management of these children and their increased life span, more of these children are presenting for anesthesia for diagnostic and therapeutic procedures. Therefore, it is important to understand the specifics of each syndrome and the anesthetic considerations and challenges in order to provide a safe anesthetic. Trisomy disorders other than trisomy 21 include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome). Even though trisomy 13 and 18 infants generally have a shortened life span (many less than a year), they can still present for diagnostic and therapeutic procedures and pose certain anesthetic risks. Other major syndromes that result in anesthesia challenges in the pediatric population include micrognathia syndromes (Pierre Robin, Treacher Collins, and Goldenhar syndrome), CHARGE syndrome, VACTREL association, metabolic syndromes, and muscular dystrophies. This chapter summarizes the clinical manifestations of the most common pediatric chromosomal abnormalities and syndromes that require unique considerations from the pediatric anesthesiologist.