摘要
研究目的：探讨导致先天性小耳畸形发生的各种危险因素，为小耳畸形的预防提供理论依据。
研究对象和方法：采用病例对照的研究方法，选取2004年2月～8月期间入院的207例6～11岁的小耳畸形患者的亲生父母为研究对象；209例无先天性疾病的住院患者的亲生父母为对照，按年龄频数进行1:1的配比。根据自行制定的小耳畸形相关危险因素调查表对病例组及对照组进行问卷调查。调查主要内容包括：1．患者及其父母基本信息；2．家族史及父母的生活方式；是否存在小耳畸形家族史、父母双方的吸烟史及饮酒史、孕期是否装修房子、父母双方是否有长期饮茶史；3．怀孕时父亲、母亲的情况：父母亲的年龄、母亲怀孕初期感染和发热、母亲用药史、母亲贫血病史、妊高征、先兆流产和保胎史、剧烈呕吐、母亲孕期的精神状况、子宫疾病和妊娠异常、X射线接触史、母亲的妊娠史等，并对相关因素进行变量统一定义。对两组的计数和计量资料通过卡方检验进行单因素分析。然后采用非条件的Logistic逐步回归法来进行各变量的多因素分析。对危险因素中的等级资料还进行了趋势卡方检验。
Objectives: To identify the risk factors associated with congenital microtia, and put forward its preventive measures.
Methods: A case-control, retrospective study was performed. A total of 207 cases of congenital microtia and 209 age-frequently-matched controls were interviewed individually according to the uniform questionnaire. The variables analyzed included: gender, education of father and mater, pregnant age of father and mater, first trimester intrauterine infection and medication, fervescence, retinoic acid, hypemia, hypertension, threatened abortion and tocolysis, vomiting of pregnancy and antemetic, psychic trauma, Uterine disease, abnormal pregnancy, pesticide, diazepam, clomifene, excessive drinking and smoking of parents, parity, abortion (spontaneous and induced) , X-ray, residence fitment, attending defect, tea and family history. The available data were analyzed by chi-square test and multivariate Logistic regression model.
Results: Compared to the controls, there were not statistically differences in the cases in age and race. The factors, such as gender, pregnant age of father and mater, first trimester intrauterine infection and medication, fervescence, hypemia, threatened abortion and tocolysis, psychic trauma, abnormal pregnancy, pesticide, excessive drinking and
引文
1. ICBDMS. Congenital malformations worldwide. A report form the International Clearinghouse for Birth Defects Monitoring Systems. Amsterdam: Elsevier, 1991
2．朱军 王艳萍 梁娟等 1988～1992年全国先天性无耳和小耳畸形患病率的抽样调查 中华耳鼻咽喉科杂志 2000；35(1)：62-65
3. Gupta A, Patton MA Familial microtia with meatal atresia and conductive deafness in five generations. Am. J. Med. Genet. 1995. Nov 6; 59(2): 238-41
4. Matsuka K, Hata Y, Yano K, et al. Comparative study of auricular dimensions for the normal auricles of microtia patients, their parents, and normal individuals. Ann. Plast. Surg. 1994 Feb; 32(2): 135-40
5. Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol. 1986 Sep; 15(3):364-8
6. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D.Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995 Jun; 32(6):453-7
7. Shaw GM, Carmichael SL, Kaidarova Z, Harris JA. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol. 2004 Jul; 70(7):472-5
8．蒋文杰．裴开颜．李文军等．小耳畸形综合征病因的初步调查 生殖医学杂志 2004，13(1)：5-8
9. Brent B. Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plast. Reconstr. Surg. 1992 Sep; 90(3): 355-74
10．黄悦勤主编 临床流行病学 人民卫生出版社2002年11．王家良主编．临床流行病学．上海：上海科技出版社，1984：24
12. SanchezO, Mendez JR,Gomez E, Guerra D.Clinic-epidemiologic study of microtia. Invest Clin. 1997 Dec; 38(4):203-17
13. Harris J, Kallen B, Robert E. The epidemiology ofanotia and microtia. J Med Genet. 1996 Oct; 33(10):809-13
14. Okajima H, Takeichi Y, Umeda K, et al. Clinical analysis of 592 patients with microtia. Acta. Otolaryngol. Suppl. 1996; 525:18-24
15. Jones KL, Johnson KA, Chambers CD. Offspring of women infected with varicella during pregnancy: a prospective study. Teratology. 1994 Jan; 49(1): 29-32
16. Koren G, Bologa M, Long D, Feldman Y, Shear NH. Perception of teratogenic risk by pregnant women exposed to drugs and chemicals during the first trimester. Am J Obstet Gynecol 1989; 160:1190-4
17. Koren G, Pastuszak A, Ito S. Drugs in pregnancy. N Engl J Med 1998; 338:1128-37
18. Jones GR.Thalidomide: 35 years on and still deforming. Lancet 1994; 343:1041
19. Lynberg MC, Khoury MJ, LammerEJ, et al. Sensitivity, spicificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance. Teratology 1990 Nov; 42 (5): 513-9
20. Wei X, Makori N, Peterson PE, et al. Pathogenesis of retinoic acid-induced ear malformations inprimate model. Teratology. 1999, 60(2): 83-92
21. Brent B. Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plast. Reconstr. Surg. 1992 Sep; 90(3): 355-74; discussion 375-6
22. Coles CO. Impact of prenatal alcohol exposure on the newborn and the child.Clin Obstet Gynecol 1993; 36:255-66
23．周燕波．陈肩荣．徐光耀．茶叶成分及其医疗价值 中同中医药信息杂志1997，11(1)：16-18
24. Takahashi H and Macda K. Survey of familial occurance in 171 microtia cases. J. Plast. Surg. 1982, 15:3101. Hussain M, Ball EA, Moss AL. Ipsilaterai microtia in monozygotic twins: an unusual concordant phenotype. Plast Reconstr Surg. 2004 Apr 1; 113(4):1293-4
2. Balci S, Boduroglu K, Kaya S. Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly. Turk J Pediatr. 2001 Oct-Dec; 43(4):362-5
3. Ewart-Toland A, Yankowitz J, Winder A, Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet. 2000 Feb 14; 90(4):303-9
4. ICBDMS. Congenital malformations worldwide. A report form the International Clearinghouse for Birth Defects Monitoring Systems. Amsterdam: Elsevier, 1991
5. Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol. 1986 Sep; 15(3):364-8
6. Sanchez O, Mendez JR, Gomez E, Guerra D. Clinic-epidemiologic study of microtia. Invest Clin. 19.97 Dec; 38(4):203-17
7. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D.Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995 Jun; 32(6):453-7
8. Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. J Med Genet. 1996 Oct; 33(10):809-13
9. Shaw GM, Carmichael SL, Kaidarova Z, Harris JA. Epidemiologic characteristics??of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol. 2004 Jul; 70(7):472-5
10．朱军 王艳萍 梁娟等 1988～1992年全同先天性无耳和小耳畸形患病率的抽样调查 中华耳鼻咽喉科杂志 2000；35(1)：62-65
11. Fukuda O. The microtic ear: survey of 180 cases in 10 year. Plastic Reconstr Surg 1974; 458-63
12. Kuroki Y, Konishi Y, Tsunoda A, Suwa S. Congenital anomalymonitoring in Kanagawa. Kanagawa Children's Medical Center Journal 1984; 13:143-55
13. Kaye CI, Roilnick BR, Hauck WW. Microtia and associated anomalies: statistical analysis. Am J Med Genet. 1989 Dec; 34(4):574-8
14. .Llano-Rivas I, G onzalez-del Angel A, del Castillo V, Reyes R, Carnevale A Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res. 1999 Mar-Apr; 30(2):120-4
15. Ellwood LC, Winter ST, Dar H: Familial microtia with meatal atresia in two sibship. J. Med. Genet. 1968(5):289-291
16. Vazquez GJ, Vega AF, Rostenberg I, et al. Microtia and meatal atresia in mother andson. Clin. Genet. 1978Aug; 14 (2): 80-2
17. Gupta A, Patton MA Familial microtia with meatal atresia and conductive deafness in five generations. Am. J. Med. Genet. 1995. Nov 6; 59(2): 238-41
18. Takahashi H and Macda K. Survey of familial occurance in 171 microtia cases. Jpn. J. Plast. Surg. 1982(15):310
19. Matsuka K, Hata Y, Yano K, et al. Comparative study of auricular dimensions for the normal auricles of microtia patients, their parents, and normal individuals. Ann. Plast. Surg. 1994 Feb; 32(2): 135-40
20. Jabs EW, Li X, Coss CA, et al. Mapping the Treacher Collins syndrome locus to 5q31.3 -q33.3. Genomics. 1991, 11:193-192
21. Kaye CI, Martin AO, Rollnick BR,et al. Oculoauruculovertebral anomaly :segregation analysis. Am J Med Genet, 1992, 43:913-917
22. Aylsworth AS, Lin AE. Male to male transmission in a second family supports autosomal dominant inheritance in Nager acrofacial dysostosis. Am J Hum Genet,??1990, 47:A47
23. Chrzanowska KH, Fryns JP. Miller postaxial crofacial dysostosis syndrome: follow-up data of a family and confirmation of autosomal recessive inheritance. Clin Genet, 1993, 43: 270
24. Okajima H, Takeichi Y, Umeda K, et al. Clinical analysis of 592 patients with microtia. Acta. Otolaryngol. Suppl. 1996; 525: 18-24
25．蒋文杰．裴开颜．李文军等．小耳畸形综合征病因的初步调查 生殖医学杂志 2004，13(1)：5-8
26. Brent B. Reconstruction of the auricle. In: Joseph G. McCarthy. Plastic Surgery. Vol 3. W.B.Saunders Company, Philadelphia, 1990, p2094-2149
27. Lynberg MC, Khoury MJ, Lammer EJ, et al. Sensitivity, spicificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance. Teratology 1990 Nov; 42 (5): 513-9
28. Wei X, Makori N, Peterson PE, et al. Pathogenesis ofretinoic acid-induced ear malformations inprimate model. Teratology. 1999, 60(2): 83-92
29. Jones KL, Johnson KA, Chambers CD. Offspring of women infected with varicella during pregnancy: a prospective study. Teratology. 1994 Jan; 49(1):29-32
30. Brent B. Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plast. Reconstr. Surg. 1992 Sep; 90(3): 355-74; discussion 375-6
31. Brent B. Microtia repair with rib cartilagegrafts: a review of personal experienc e with1000 cases. Clin Plast Surg. 2002 Apr; 29(2):257-71
32. Siegert R, Knolker U, Konrad E. Psychosocial aspects in total external ear reconstruction in patients with severe microtia Laryngorhinootologie. 1997 Mar; 76(3):155-61