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Clinical Characteristics Analysis of 1051 Cases of Cleft Lip With/Without Cleft Palate in the Ethnic Tibetan Population
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摘要:目的
了解藏族人群先天性唇腭裂的临床流行特征，为开展藏族人群唇腭裂精准防治提供依据。
方法收集2016年1月−2023年8月间，四川大学华西口腔医院收治的2月龄～51岁藏族唇腭裂患者（以四川省以及西藏自治区为主要来源）临床资料，分析其临床特征。
结果本研究共纳入
1051 例患者，以小于12月龄患儿为主（460例），其中单纯唇裂383例（36.44%），单纯腭裂140例（13.32%），唇裂伴腭裂528 例（50.24%）。单纯唇裂（0.99∶1）、单纯腭裂（0.54∶1）以及唇裂伴腭裂患者（1.67∶1）男女性别比的差异有统计学意义（P<0.001），但按单双侧分组，在单纯唇裂、唇裂伴腭裂这两组中性别差异均无统计学意义。双侧唇裂患者中以女性为主，单侧唇裂以及单、双侧唇裂伴腭裂均以男性为主，单侧唇裂伴或不伴腭裂均以左侧为主。综合征型唇腭裂所占总病例数的比例为3.43%，伴发畸形中最常见的是先天性心脏病；3.81%（40例）的患者有家族史，在单纯唇裂及单纯腭裂患者中，对应亲代中存在相应表型的比例高于唇腭裂其他表型。出生于春季的患儿最多（311例，29.59%），冬季的患儿最少（231例，21.98%）。结论藏族唇腭裂患者发病以唇裂伴腭裂为主，单侧唇裂伴或不伴腭裂中以左侧为主。唇部疾病表型可能具有更强的遗传性。
Abstract:ObjectiveTo examine the characteristics of the prevalence of congenital cleft lip with/without cleft palate in the ethnic Tibetan population and to provide support for the precise prevention and treatment of cleft lip with/without cleft palate in the Tibetan population.
MethodsThe clinical data of Tibetan patients with cleft lip with/without cleft palate were collected and the clinical characteristics of the patients were analyzed. The patients' age ranged from 2 months to 51 years old. All the subjects were admitted to West China Stomatology Hospital, Sichuan University for the treatment of cleft lip with/without cleft palate between January 2016 and August 2023. Most of the subjects came from Sichuan Province and the Tibet Autonomous Region.
ResultsA total of
1051 patients were enrolled and children aged under 12 months (460 cases) accounted for the largest proportion. Among the subjects, 383 had cleft lip only (36.44%), 140 had cleft palate only (13.32%), and 528 had cleft lip with cleft palate (50.24%). The male-to-female ratios of patients with cleft lip only (0.99∶1), cleft palate only (0.54∶1), and cleft lip with cleft palate (1.67∶1) exhibited significant differences (P<0.001). However, there was no significant difference in the male-to-female ratio in patients with cleft lip only or those with cleft lip with cleft palate when the subjects were divided into two groups according to whether they had unilateral or bilateral cleft lip with/without cleft palate. Most of the patients with bilateral cleft lip were female, while most of the patients with unilateral cleft lip and unilateral or bilateral cleft lip with cleft palate were male. The unilateral cleft lip with/without cleft palate was located predominantly on the left side. Syndromic cleft lip with/without cleft palate accounted for 3.43% of all the cases and the most common concomitant deformity was congenital heart disease. 3.81% (40 cases) of the patients had a family history. In the patients with cleft lip only and those with cleft palate only, the proportion of patients having parents with corresponding phenotypes was higher than those of other phenotypes of cleft lip with/without cleft palate. Regarding the birth time distribution of the children with cleft lip with/without cleft palate, Spring saw the highest number of births of these children (311 cases, 29.59%), while Winter saw the lowest number of births (231 cases, 21.98%).ConclusionThe cases of cleft lip with/without cleft palate in the ethnic Tibetan population are predominantly cleft lip and palate. Unilateral cleft lip only or cleft lip with palate is predominantly located on the left side. Lip disease phenotypes may be more heritable.
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Keywords:
- Cleft lip /
- Cleft palate /
- Cleft lip with palate /
- Tibetan population /
- Clinical data analysis
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图 1 唇腭裂患者出生月份分布图
Figure 1. Birth time distribution of patients with cleft lip with/without cleft palate
表 1 唇腭裂类型及构成比
Table 1 The phenotypes of cleft lip with/without cleft palate and corresponding constituent ratios
Characteristic Cleft lip only Cleft palate only Cleft lip with palate Total Left Right Bilateral Left Right Bilateral Patients/case 207 137 39 140 250 133 145 1051 Constituent ratio/% 19.70 13.04 3.71 13.32 23.79 12.65 13.80 100.00 
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表 2 各类型唇腭裂患者的性别比（n=
1051 ）Table 2 The sex distribution of patients with cleft lip with/without cleft palate (n=
1051 )Phenotype Male/case Female/case Male∶female χ2 P Cleft palate only 49 91 0.54∶1 Cleft lip only 191 192 0.99∶1 Unilateral cleft lip 174 170 1.02∶1 0.685 0.500 Bilateral cleft lip 17 22 0.77∶1 Cleft lip with palate 330 198 1.67∶1 Unilateral cleft lip with palate 236 147 1.61∶1 0.462 0.546 Bilateral cleft lip with palate 94 51 1.84∶1
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表 3 综合征型唇腭裂比例分布
Table 3 The distribution of syndromic cleft lip with/without cleft palate
Characteristic Cleft lip
onlyCleft palate
onlyCleft lip
with palateTotal Non-syndromic/case (%) 372 (97.13) 131 (93.57) 512 (96.97) 1015 (96.57)Syndromic/case (%) 11 (2.87) 9 (6.43) 16 (3.03) 36 (3.43)
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表 4 唇腭裂家族史中亲代遗传给子代患病类型
Table 4 Family history--types of cleft lip with/without cleft palate inherited from parents to children
Children Parents/case (%) Total/case Cleft lip
onlyCleft palate
onlyCleft lip
with palateCleft lip only 12 (75.00) 0 (0.00) 4 (25.00) 16 Cleft palate only 1 (14.29) 4 (57.14) 2 (28.57) 7 Cleft lip with palate 8 (47.06) 1 (5.88) 8 (47.06) 17
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