窒息性胸廓发育不良(2例报告并文献复习)  

Asphyxiating Thoracic Dysplasia(A Report of 2 Cases and a Review of the Literature)

作　　者：李东辉[1] 张宁宁[1] 徐赛英[1] 祁大文[1] 孙国强[1] 任甄华[1] 

机构地区：[1]首都医科大学附属北京儿童医院放射科,北京100045

出　　处：《实用放射学杂志》2002年第9期798-800,共3页Journal of Practical Radiology

摘　　要：目的　提高对窒息性胸廓发育不良的认识。方法　对 2例窒息性胸廓发育不良的临床表现、影像特征进行描述 ,并结合文献分析。结果　 (1)窒息性胸廓发育不良是一种少见的常染色体隐性遗传性骨软骨发育不良性疾病。 (2 )多见于婴儿早期 ,但可迟至青春期 ,临床以胸廓狭小及伴发的呼吸系统异常 ,肾消耗病的进行性加重为主要表现 ,并可有其他系统合并症。 (3 )影像表现特征为胸廓狭长 ,骨盆畸形及肢体畸形。包括 :长骨短、干骺端增宽、掌指骨短粗、锥形骨骺及赘生指。Objective To make a further understanding of asphyxiating thoracic dysplasia (ATD).Methods The clinical findings and the imaging features of 2 cases with ATD were described and analyzed combining with literature. Results ⑴ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.⑵The most cases with ATD occurs in early childhood and only a few is delayed to adolescence.The clinical manifestation with ATD is characterized by a narrow thoracic cage causing respiratory abnormality, nephronopthsis getting worse and worse,and many complication in other system.⑶The imaging features with ATD is characterized by a narrow thorax,deformity of pelvis and extremital deformity including that tubular long bone is short,metaphyseal irregularities widening are present,the short tubular bones of the hands and feet demonstrate pyknic and cone-shaped epiphyses,and polydactylism.Conclusion The diagnosis of ATD can be made solely by imaging features.

关 键 词：窒息性胸廓发育不良 骨畸形 临床表现 影像学特征 ATD 

分 类 号：R681.1[医药卫生—骨科学] R596[医药卫生—外科学]