Crowley Robin L, Haas Richard E
York College of Pennsylvania/WellSpan Health Nurse Anesthetist Program, USA.
AANA J. 2010 Oct;78(5):366-8.
Diastrophic dwarfism is an autosomal recessive disease that predominantly occurs in the Finnish population (1 in 33,000) but has been known to occur worldwide. Affected patients present with multiple cartilaginous anomalies and early degeneration of weight-bearing joints. Once past infancy, life expectancy is favorable and patients may undergo multiple surgical procedures throughout their lifetime to repair .or replace affected joints. The characteristic short trunk of these patients in addition to scoliosis, cervical kyphosis, and involvement of articular cartilages can create unique ventilation and airway challenges for anesthesia providers involved in their care.
畸形性侏儒症是一种常染色体隐性疾病,主要发生在芬兰人群中(33000人中1例),但在全世界都有发病报道。患病患者出现多种软骨异常以及负重关节的早期退变。一旦度过婴儿期,预期寿命良好,患者一生中可能需要接受多次外科手术来修复或置换受累关节。这些患者典型的短躯干,再加上脊柱侧弯、颈椎后凸以及关节软骨受累,会给参与其治疗的麻醉医生带来独特的通气和气道管理挑战。