Achondroplasia
摘要
As the name achondroplasia (ACH) suggests, short stature results from a lack of cartilaginous cellular growth (a-chondro-plasia). It is the most common form of the skeletal dysplasias resulting in dwarfism. ACH occurs because of a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation leads to a myriad of medical problems that present from early infancy and continue into adulthood. With good medical care and attention to a healthy lifestyle, those with ACH can live fulfilling and enriching lives. Two of the more famous individuals with ACH in recent times are 49-year-old (at the time of this writing) Jason Acuna and 53-year-old Peter Dinklage. Acuna is better known as Wee Man for his role as a stunt performer in the comedic television series Jackass. Peter Dinklage is best known for his Emmy award-winning role for outstanding supporting actor in the HBO television series Game of Thrones. In this chapter, we discuss the genetics, common features, comorbid conditions, and perioperative care of people with ACH from the perspective of an anesthesiologist.