家族性小耳畸形合并法洛四联症和脊柱侧弯综合征病例报道并文献复习
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery（2019）
Abstract
先天性小耳畸形是一种涉及外耳和中耳发育异常的先天性畸形.在我国,文献报道其发病率约为3.06/10 000[1].多数患者仅有外耳、中耳畸形单一临床表型,约40％的小耳畸形患者合并其他畸形,或是某种综合征的一部分[2].常见的合并畸形有:眼部异常、唇腭裂、四肢畸形、椎体畸形、肾畸形、先天性心脏病等[3].Luquetti等[3]报道小耳畸形伴发先天性心脏畸形的发病率约为18.5％.小耳畸形患者中脊柱侧凸的发生率仅为7％[4].小耳畸形临床表现多样,但同时合并多种畸形者罕见.本文报道1例家族性小耳畸形患者,同时合并有法洛四联症、脊柱侧弯和牙齿发育异常的多系统畸形,并进行文献回顾.
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Key words
Goldenhar syndrome,congenital abnormalities,microtia,oculo auriculo vertebral spectrum,scoliosis,tetralogy of Fallot
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