Ihringer K, Russ N, Walther A, Schiff J-H
Klinik für Anästhesiologie u. operative Intensivmedizin, Klinikum Stuttgart, Katharinenhospital, Kriegsbergstr. 60, 70174 Stuttgart, Deutschland.
Anaesthesist. 2013 May;62(5):407-19. doi: 10.1007/s00101-013-2170-1.
The most common chromosomal abnormality is trisomy 21 which is also known as Down syndrome and occurs in approximately 1 in 800 births. The majority of the resulting disabling conditions cannot be cured and affect people of all ages, ethnicity and economic levels. Life expectancy has increased with advances in medical care in the same way as in the rest of the population. One of the major tasks for health care professionals is to help these differently abled children and their families function in the most effective way possible as they learn to accept the limitations imposed by a persistent disability. Signs and symptoms of trisomy 21 are very variable based on the trias of mental retardation to a variable degree, hand anomalies and cardiac complications. Other abnormalities are atlantoaxial instability (AAI), tracheal stenosis, a predisposition to respiratory complications, chronic hypothyroidism, microgenia and macroglossia. These conditions are relevant to anesthetic procedures and patients with Down syndrome and their families have specific expectations and attitudes towards medical and anesthetic treatment.
最常见的染色体异常是21三体综合征，也称为唐氏综合征，大约每800例出生中就有1例发生。由此导致的大多数致残性疾病无法治愈，且影响所有年龄、种族和经济水平的人群。与其他人群一样，随着医疗护理的进步，预期寿命有所增加。医疗保健专业人员的主要任务之一是帮助这些残疾儿童及其家庭尽可能有效地发挥功能，因为他们要学会接受持续性残疾所带来的限制。21三体综合征的体征和症状因智力发育迟缓程度不一、手部异常和心脏并发症三联征而有很大差异。其他异常包括寰枢椎不稳（AAI）、气管狭窄、易发生呼吸道并发症、慢性甲状腺功能减退、小下颌和巨舌症。这些情况与麻醉程序相关，唐氏综合征患者及其家庭对医疗和麻醉治疗有特定的期望和态度。
