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

Case report of familial microtia combined with tetralogy of Fallot and scoliosis and literature review

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]。

Microtia is a kind of malformation affecting the development of the external ear and middle ear.In China,researches have pointed out that the incidence of microtia was 3.06 per 10 000 people.About 40%of patients with microtia were identified with other systemic malformation,and the commom complications included congenital heart disease,scoliosis,anophthalmia,cleft palate,facial asymmetry,facial asymmetry,etc.Of which,the prevalence of microtia with congenital heart disease was 18.5%,and it was 7%of patients with scoliosis.It is very rare for patients of microtia combined with multi-malformations.In this study,we reported a case of familial microtia combined with tetralogy of Fallot and scoliosis,and undertook a systematic review of the literature.