Nelson Marc E, Griffin Garrett R, Innis Jeffrey W, Green Glenn E
Department of Otolaryngology, University of Michigan Health System, Ann Arbor, Michigan, USA.
Ann Otol Rhinol Laryngol. 2011 Oct;120(10):682-5. doi: 10.1177/000348941112001009.
Campomelic dysplasia is a rare and historically lethal skeletal dysplasia with a variable but recognizable phenotype; it affects the long bones and is associated with a variety of head and neck anomalies. Mutations in or around the SOX9 gene have been identified as the molecular origin in most patients. We briefly present 2 children who meet the diagnostic criteria for campomelic dysplasia to illustrate the various clinical manifestations. Many patients with campomelic dysplasia have airway obstruction at multiple levels. We describe our approach to managing the airway in these patients, and review recent advances in understanding how SOX9 mutations lead to the spectrum of abnormalities seen in the head and neck.
弯肢侏儒症是一种罕见的、在历史上被认为具有致死性的骨骼发育异常疾病，其表型多样但具有可识别性；它会影响长骨，并伴有多种头颈部异常。已确定大多数患者的分子病因是SOX9基因内部或其周围的突变。我们简要介绍2名符合弯肢侏儒症诊断标准的儿童，以说明其各种临床表现。许多弯肢侏儒症患者存在多个层面的气道阻塞。我们描述了我们处理这些患者气道问题的方法，并回顾了在理解SOX9突变如何导致头颈部出现一系列异常方面的最新进展。
