摘要目的 探讨Keutel综合征的临床特点及诊断.方法 回顾性分析山东大学附属省立医院儿科诊断的1例Keutel综合征,并复习相关文献,分析本病的临床表现、影像学特点及治疗方法.结果 患儿男,8个月26 d,临床表现为出生后吸气性呼吸困难,活动后加重.面中部塌陷,鼻梁低平,肺部听诊可闻及喘鸣音及湿哕音,胸骨左缘第2、3肋间闻及2/6级收缩期杂音.双上肢末节指骨短小.肺部影像学显示气管狭窄,气管-支气管管壁多发钙化影,超声心动图提示右肺动脉狭窄.曾经过支气管镜介入治疗及常规抗感染等对症支持治疗,病情好转.但出院21 d后因肺部再次感染死亡.从PubMed数据库检索到相关文献22篇共26例患者,临床主要表现为听力缺失(91％),持续呼吸道症状(68％),反复中耳炎或鼻窦炎(67％),生长发育延迟(52％)；体征主要有末节指骨短小(100％),鼻梁低平(95％),面中部发育不良(93％),心脏杂音(69％)；辅助检查可见软骨钙化(100％),肺动脉狭窄(72％),气管狭窄(50％).结论 对面中部发育不良、软骨异常钙化并有末节指骨短小、肺动脉狭窄的患儿,要注意Keutel综合征的可能性.部分患儿有气管狭窄的临床表现.

abstractsObjective To investigate the clinical characteristics,diagnosis and therapy of Keutel syndrome,and thereby to minimize the misdiagnosis.Method Data of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.Result An 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation.His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge.The nose was small and flat.A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum.The end phalanges of his fingers were thickened.Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis.Echocardiographic examination revealed the right pulmonary stenosis.With endoscopic surgery,antiobstructive and antibiotic therapy clinical symptoms were improved.Three weeks later he died of lung reinfection after he was discharged from our hospital.English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients,and the clinical symptoms were hearing loss (91％),persistent respiratory symptoms (68％),recurrent otitis media/sinusitis (67％),growth development delay (52％) in turn,and signs were brachytelephalangism (100％),low nasal bridge (95％),midfacial hypoplasia (93％),cardiac murmur (69％),and auxiliary examinations showed abnormal cartilage calcification (100％),pulmonary arterial stenosis (72％),tracheobronchial stenosis (50％).Conclusion The diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism,abnormal cartilage calcification,peripheral pulmonary stenosis,and midfacial hypoplasia.Tracheal stenosis was main clinical manifestation in part of patients.