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唇腭裂患者的后代患病概率多大?问:我的父亲是单侧唇腭裂,我为女性,请问如果我生孩子,患这种疾病的概率大吗?答:唇腭裂属于多基因遗传病,群体发病率约为0.17%。其遗传度为76%,患者一级亲属发病率约为4%,二级亲属发病率约0.7%,三级亲属发病率约0.3%。所以你子女患唇腭裂的概率(0.7%)比普通人群(0.17%)略高。     

唇腭裂患儿下调表达的miRNA相关研究

目的:唇腭裂是口腔颌面部最常见的先天性畸形,危害严重。mi RNA在细胞分化,生物发育及疾病发生发展过程中发挥巨大作用,越来越多的受到科研人员的关注。本课题对唇腭裂患儿下调表达的mi RNA与唇腭裂相关性进行验证研究,为mi RNA应用在唇腭裂防治中奠定一定的基础。方法:通过芯片分析方法检测唇腭裂患儿表达下调的mi RNA,利用MIRDB、TARGETSCAN-VERT和RNA22-HSA这三个生物信息学软件对唇腭裂患儿表达下调的mi RNA进行靶基因预测分析,验证候选mi RNA与唇腭裂具有相关性。结果:得出唇腭裂患儿中出现差异表达下调的mi RNA有hsa-mi R-3119,hsa-mi R-3915等73个,其中hsa-mi R-3611对应的靶基因GABRB3和hsa-mi R-764对应的靶基因F13A1有文献报道与唇腭裂具有相关性。结论:hsa-mi R-3611,hsa-mi R-764可能与唇腭裂的发生存在关联。     

新生儿唇腭裂术前矫治方法与技术的临床探讨

目的:评价新生儿唇腭裂术前进行鼻-牙槽突-腭畸形矫治方法的疗效。方法:对28例单双侧唇腭裂新生儿进行术前鼻-牙槽突-腭畸形矫治治疗,在面部确定基点,利用数码相机拍射照片,通过image-Pro Plus5.1软件测量相关距离及角度,测量治疗前后的鼻小柱倾斜度、鼻小柱长度、鼻孔宽度和鼻孔高度。治疗前后取上颌石膏模型进行牙槽骨裂隙宽度的测量,比较矫治治疗前后腭部裂隙最大处及牙槽突裂隙的变化。结果:鼻小柱倾斜度平均减小27.11°,鼻孔宽度平均减小4.39 mm(单)或5.29 mm(双),鼻孔高度平均增加2.56 mm(单)或3.57 mm(双),牙槽突裂隙平均减少3.18 mm,腭部裂隙最大处平均减少5.77 mm。治疗前后的各项差异均有统计学意义(P0.05),鼻塌陷畸形程度也得到显著改善。结论:术前进行鼻-牙槽突-腭畸形矫治治疗可为唇腭裂患者手术治疗创造有利条件,提高其整复效果。     

面部光谱成分测量及计算机分析的应用

面部颜色反映人体生命活动与健康状况的重要信息,迄今尚缺乏有效的客观观测手段.本研究首次设计研制了面部反射光谱成分测量仪及其计算机分析系统,对每名受试者面部32个部位进行256个光分量的广泛测量及计算机处理.实施了面部颜色的客观化、定量化研究.经健康人、冠心病、高血压病、脑血管意外后遗症、糖尿病、慢性支气管炎、贫血等111人测试,结果不仅获得健康人的颜面色诊客观化标准,还发现了各种疾病患者面部反射光谱成分以及该疾病相关的特异性改变规律,包括这种特异信息部位的出现及其反射光谱成分的变化,其变化规律既不同于健康人,又不同于其他疾病患者,从而获得各种不同疾病的面诊客观化标准.本研究结果可用于人体健康状况及疾病的客观化诊断,也为祖国医学望诊理论提供了客观佐证.     

笑弧在面部宽窄不同的个体中对微笑美学的影响

目的:研究面部宽窄不同女性的笑弧对微笑美学的影响。方法:选取女性正位微笑像1张,应用Adobe Photoshop CS5软件对笑弧和面部宽窄进行修改,由正畸医生和非专业人士对照片的微笑魅力值进行评判。结果:笑弧和面部宽窄程度在魅力微笑的判别中无交互作用(P0.05)。两组对理想的笑弧、略窄的面型和适宜的面型的魅力微笑判别分值较高(P0.05)。非专业人群中,在三种笑弧中,除了很窄的面型,魅力微笑的分值均随着面型的增宽降低(P0.05)。专业人群中,对于平坦的笑弧,除了很宽的面型,魅力微笑的分值随着面型的增宽而增加(P0.05);对于理想的笑弧,魅力微笑的分值随着面型的过宽或过窄而降低,但仍高于其他两种笑弧(P0.05);对于弯曲的笑弧,除了很窄的面型,魅力微笑的分值随着面型的增宽而降低(P0.05)。结论:笑弧和面部宽窄对魅力微笑的判别具有一定影响。不同人群对笑弧及面部宽窄与微笑美学的认识也存在差异,在正畸治疗中应根据患者面部宽窄合理的选择治疗方案。     

胎儿唇裂与唇腭裂产前超声诊断分析

目的:探讨超声诊断胎儿唇裂与唇腭裂的图像特征,以提高胎儿唇裂及唇腭裂的确诊率。方法:选取我院2013年1月~2013年12月的2381例产前超声筛查检查出的17例唇腭裂胎儿,经二维三维超声检查后与出生后颜面部检查结果比较。结果:17例唇腭裂胎儿共检查出16例,漏检1例,检出准确率94.12%,其中1例完全唇裂伴完全腭裂仅检查出唇裂,误检率5.88%。其中未合并其他畸形胎儿16例(94.12%,16/17),完全唇裂伴完全腭裂13例(76.47%,13/17),单纯唇裂2例(11.76%,2/17),单纯腭裂1例(5.88%,1/17);唇腭裂合并其他畸形胎儿1例。结论:产前进行超声检查在胎儿唇裂和唇腭裂诊断中具有显著作用,发现唇裂或唇腭裂后可经多次反复检查确诊,对于部分胎儿可能存在患有唇裂或唇腭裂而漏检情况。     

偏突颌畸形患者手术前后面部软组织的三维测量研究

目的:探讨偏突颌畸形患者手术后面部软组织变化规律,明确其正侧面部对称性改变及各标志点变化范围,以指导手术方案设计。方法:收集于我科行正畸正颌联合治疗的15例偏突颌畸形患者,分别在正颌手术前后采集患者面部软组织三维扫描数据,建立统一坐标系,测量术前和术后软组织解剖标志点的坐标变化。统计分析不对称性系数及各标志点变化,比较术前术后数据。结果:患者手术前后面部对称性改变结果中,颏前点、颏顶点、颏下点、双侧鼻翼基点、双侧颊点的不对称系数比较差异有统计学意义(P0.05)。患者正面像中除上唇缘点外各选择标志点水平方向的坐标变化均有统计学意义(P0.05),且可见颏顶点、颏下点、双侧鼻翼基点呈显著变化(P0.001),说明其面下1/3对称性得到改善,各标志点纠偏程度也整体呈自上而下的逐渐增强的变化趋势。结论:正颌手术能够有效改善偏突颌畸形患者面部软组织的不对称性。     

先天性唇腭裂病400例病因探讨

目的:探讨先天性唇腭裂病的病因,寻找预防办法。方法:对先天性400例唇腭裂手术患者的父母在怀孕前后居住生活、饮食卫生、嗜好、心情精神状态及患病情况做统计分析。结果:400例患者父母怀孕前后居住面积在30m2以下占75%,饮酒吸烟者人数627人中78.3%,女性饮酒167人占41.07%。患普通感冒730人。怀孕在1月内患感冒283人,心情不愉快精神紧张受到不良刺激362人。结论:通过对400例患者父母怀孕前后生活居住患病嗜好精神等因素情况得出结论与外界环境关系密切,尤其怀孕早期患病饮酒吸烟心情不愉快对该病发生起一定作用,但该病是多种原因综合因素所致的一种先天性疾病,具有一定遗传性,但也有可以预防的一方面,在该病发生的过程中有一个主要因素起主导作用,有待今后继续研讨。     

35 例面部外伤合并海水浸泡的临床救治体会

目的:回顾35例面部外伤合并海水浸泡的治疗.方法:对35例病人采取包括清水、庆大霉素溶液清洗和抗感染等治疗.观察创面的感染情况和临床治疗结果.结果:35例患者外伤愈合良好,无感染、血肿,随访未发生瘢痕增生等并发症.结论:在面部损伤急诊处理中,应用整形外科技术对患者面部功能及形态的恢复有很大的帮助.     

先天性唇腭裂病400例病因探讨

目的：探讨先天性唇腭裂病的病因,寻找预防办法。方法：对先天性400例唇腭裂手术患者的父母在怀孕前后居住生活、饮食卫生、嗜好、心情精神状态及患病情况做统计分析。结果：400例患者父母怀孕前后居住面积在30m^2以下占75％,饮酒吸烟者人数627人中78．3％,女性饮酒167人占41．07％。患普通感冒730人。怀孕在1月内患感冒283人,心情不愉快精神毋张受到不良刺激362人。结论：通过对400例患者父母怀孕前后生活居住患病嗜好精神等因素情况得出结论与外界环境关系密切,尤其怀孕早期患病饮酒吸烟心情不愉快对该病发生起一定作用,但该病是多种原因综合因素所致的一种先天性疾病,具有一定遗传性,但也有可以预防的一方面,在谊病发生的过程中有一个主要因素起主导作用,有待今后继续研讨。     

A prospective evaluation of the prevalence of submucous cleft palate in patients with isolated cleft lip versus controls.

Although there is an established relationship between cleft lip and overt cleft palate, the relationship between isolated cleft lip and submucous cleft palate has not been investigated. To test the hypothesis that patients with isolated cleft lip have a greater association with submucous cleft palate, a double-armed prospective trial was designed. A study group of 25 consecutive children presenting with an isolated cleft lip, with or without extension through the alveolus but not involving the secondary palate, was compared with a control group of 25 children with no known facial clefts. Eligible patients were examined for the presence of physical criteria associated with classic submucous cleft palate, namely, (1) bifid uvula, (2) absence of the posterior nasal spine, and (3) zona pellucida. Nasoendoscopy was subsequently performed just after induction of general anesthesia, and the findings were correlated with digital palpation of the palatal muscles. Patients who did not satisfy all three physical criteria and in whom nasoendoscopy was distinctly abnormal relative to the control group were classified as having occult submucous cleft palate. Classic submucous cleft palate was found in three study group patients (12 percent), all of whom had flattening or a midline depression of the posterior palate and musculus uvulae on nasoendoscopy and palpable diastasis of the palatal muscles under general anesthesia. An additional six study group patients (24 percent) had similar nasoendoscopic criteria and palpable diastasis of the palatal muscles; they were classified as having occult submucous cleft palate. No submucous cleft palate was identified in the control group. Seventeen patients in the study group had an alveolar cleft with a 53 percent (9 of 17) prevalence of submucous cleft palate. In the present study, classic submucous cleft palate in association with isolated cleft lip was 150 to 600 times the reported prevalence in the general population. All children with an isolated cleft lip should undergo peroral examination and speech/resonance assessment no later than the age of 3 years. Any child with an isolated cleft lip with velopharyngeal inadequacy or before an adenoidectomy should be assessed by flexible nasal endoscopy to avoid missing an occult submucous cleft palate.     

Growth status of children treated for unilateral cleft lip and palate

Cephalometric distances, angles, and proportions were evaluated for 32 children 5 to 8 years of age treated for unilateral cleft lip and palate. The children were age and sex matched with untreated controls with normal skeletal relationships. The unilateral cleft lip and palate sample was treated by the same surgeon and orthodontist using the same techniques and appliances. Measures of overall facial proportions, facial convexity, and prognathism were not significantly different between the two groups. The primary group differences pertain to the posterior aspect of the maxilla, which is vertically short in the unilateral cleft lip and palate sample. Horizontally, the maxilla of the unilateral cleft lip and palate children was significantly longer, producing a steeper palatal plane. In addition, the zygoma and orbits of unilateral cleft lip and palate children were somewhat retruded; the posterior cranial base and total mandibular length also were longer in the unilateral cleft lip and palate children.     

Three-dimensional nasolabial displacement during movement in repaired cleft lip and palate patients

The objective of this study was two-fold: (1) to explore the suitability of a novel modified Procrustes fit method to adjust data for head motion during instructed facial movements, and (2) to compare the adjusted data among repaired unilateral (n = 4) and bilateral (n = 5) cleft lip and palate patients and noncleft control subjects (n = 50). Using a video-based tracking system, three-dimensional displacement of 14 well-defined nasolabial landmarks was measured during four set facial animations without controlling for head motion. The modified Procrustes fit method eliminated the contributions of head motion by matching the most stable landmarks of each video-recorded frame of the face during function to frames at rest. Its effectiveness was found to approximate that of a previous method (i.e., use of a maxillary occlusal splint to which stable dentition-based markers were attached). Data from both the unilateral and bilateral cleft lip and palate patients fell outside the normal range of maximum displacements and of asymmetry, and individual patients demonstrated greater right-versus-left asymmetry in maximum displacement than did individual noncleft subjects. It is concluded that the modified Procrustes fit method is fast, is easy to apply, and allows subjects to move the head naturally without the inconvenience of a splint while facial movement data are being collected. Results obtained using this method support the view that facial movements in cleft patients may be severely hampered and that assessment of facial animation should be strongly considered when contemplating surgical lip revisions.     

Morphology of the orbital region in adults following the cleft lip-palate repair in childhood

Four measurements and two qualitative signs related to the orbits of 145 adult Caucasian cleft lip/palate patients operated on in childhood were compared with similar data on 100 normal Caucasian Canadians. The average interorbital distance in male patients with unilateral and bilateral cleft lip/palate was greater than in controls, while the interorbital distance in both male and female patients with isolated cleft palate was the same as that in controls. A hypertelorism increased interorbital distance of greater than 2 S.D. above the normal was recorded in 10 cleft patients out of 145, the maximum in male cleft patients being 48 mm and in female cleft patients 38 mm. Orbital eye fissure length asymmetry was seen only in the cleft study group while a dislocation of the eye fissure levels in the frontal plane was found both in patients with clefts and in controls. No direct relationship was found between the extent of the cleft and the incidence of hypertelorism, nor between the site of the cleft and eye fissure asymmetry in unilateral cleft lip/palate patients. The epicanthic fold was significantly more frequent in cleft lip/palate patients (28/145) than in controls (10/100). Anti-mongoloid eye fissure type was recorded only in patients with cleft but mongoloid eye fissure was present both in patients with clefts and controls.     

Facial clefts in Saudi Arabia: an epidemiologic analysis in 179 patients

One hundred and seventy-nine consecutive cases of facial clefts that were treated at the King Khalid University Hospital, in Riyadh, Saudi Arabia, were analyzed for an epidemiologic study. Isolated cleft lip was present in 38 percent, cleft of lip and palate in 37.4 percent, and cleft of the posterior palate in only 22.4 percent. There was a male preponderance in all types. In cases of cleft lip with or without cleft palate, the more commonly affected side was the left, followed by bilateral cases. Associated malformations were present in 13.4 percent. A positive family history was found in 26.8 percent of cases. A significant number of patients (7.8 percent) were first seen at more than 10 years of age. The incidence of facial clefts at this hospital was 0.3 per 1000 live births, computed over a period of 6 years. This incidence is significantly lower than that reported from European and Far Eastern countries.     

Signaling through Tgf-beta type I receptor Alk5 is required for upper lip fusion

Cleft lip with or without cleft palate is one of the most common congenital malformations in newborns. While numerous studies on secondary palatogenesis exist, data regarding normal upper lip formation and cleft lip is limited. We previously showed that conditional inactivation of Tgf-beta type I receptor Alk5 in the ectomesenchyme resulted in total facial clefting. While the role of Tgf-beta signaling in palatal fusion is relatively well understood, its role in upper lip fusion remains unknown. In order to investigate a role for Tgf-beta signaling in upper lip formation, we used the Nes-Cre transgenic mouse line to delete the Alk5 gene in developing facial prominences. We show that Alk5/Nes-Cre mutants display incompletely penetrant unilateral or bilateral cleft lip. Increased cell death seen in the medial nasal process and the maxillary process may explain the hypoplastic maxillary process observed in mutants. The resultant reduced contact is insufficient for normal lip fusion leading to cleft lip. These mice also display retarded development of palatal shelves and die at E15. Our findings support a role for Alk5 in normal upper lip formation not previously reported.     

A comparison of the craniofacial morphology in 2-month-old unoperated infants with unilateral complete cleft lip and palate, and unilateral incomplete cleft lip.

This paper reports a cephalometric analysis of the craniofacial morphology in infants with unoperated unilateral complete cleft lip and palate (UCCLP) and unoperated unilateral incomplete cleft lip (UICL). The purpose of the study was to determine the nature and extent of the craniofacial deviations in UCCLP as compared to the morphology in UICL, which has previously been shown to be close to normal. The samples comprised 82 infants with UCCLP (58 males and 24 females) and 75 with UICL (48 males and 27 females). The mean age was about 2 months in both groups. The cephalometric analysis of craniofacial morphology included the lateral, frontal, and axial projections. The data were presented as mean plots of the craniofacial region including the calvaria, cranial base, orbits, nasal bone, maxilla, mandible, cervical column, pharynx, and soft-tissue profile. The most pronounced deviations in the UCCLP group were observed in the maxillary complex and the mandible. The most striking findings were: markedly increased width of the maxilla, a short mandible, and bimaxillary retrognathia except for the premaxillary area, which was relatively protruding and asymmetric. The study did not support the hypothesis previously suggested in the literature that cleft lip and palate is a craniofacial anomaly as size and shape of the calvaria and cranial base were found to be normal. The etiology of cleft lip and palate is still incompletely understood. Based on the present study, we suggest that facial type may be a liability factor that could represent a developmental threshold increasing the probability of cleft lip and palate.     

Long-term results following velopharyngoplasty with a cranially based pharyngeal flap.

Between 1980 and 1989, 82 velopharyngoplasties have been carried out in the Department of Oral and Maxillofacial Surgery at the Medical University of Hannover. Speech results of 51 of these patients, including 39 patients with cleft lip and palate, could be followed up in the context of a clinical follow-up examination. Besides evaluation of speech results by two senior speech pathologists and two untrained listeners, a frequency analysis of the speech results with a sonograph was obtained. Nasal air loss was documented with a fogged-mirror test and computer aerometry. Whereas in 37 of 51 patients a normal or almost normal colloquial speech could be demonstrated, 30 of 39 patients with cleft lip and palate showed a normal or almost normal realization of the test sentences. Thirty of the 37 patients (81.08 percent) with normal or almost normal colloquial speech showed extensive mobility of the lateral pharyngeal wall. Symmetry of the velopharyngeal flaps seemed to have no influence on the speech result. With a fogged-mirror test, an average reduction of mirror fogging from 2.0 rings preoperatively to 0.9 rings postoperatively could be shown. In 31 patients, there was no longer any air loss postoperatively. Besides one rupture of a flap, two flaps had to be diminished in their lateral dimensions because of excessive size. We regard the cranially pedicled pharyngeal flap as an important operative procedure for improving speech results, especially in cleft lip and palate patients.     

Binderoid complete cleft lip/palate

A small subset of infants with complete cleft lip/palate look different because they have nasolabiomaxillary hypoplasia and orbital hypotelorism. The authors' purpose was to define the clinical and radiographic features of these patients and to comment on operative management, classification, and terminology. The authors reviewed 695 patients with all forms of incomplete and complete cleft lip/palate and identified 15 patients with nasolabiomaxillary hypoplasia and orbital hypotelorism. All 15 patients had complete labial clefting (5 percent of 320 patients with complete cleft lip/palate), equally divided between bilateral and unilateral forms. The female-to-male ratio was 2:1. Of the seven infants with unilateral complete cleft lip/palate, one had an intact secondary palate and all had a hypoplastic septum, small alar cartilages, narrow basilar columella, underdeveloped contralateral philtral ridge, ill-defined Cupid's bow, thin vermilion-mucosa on both sides of the cleft, and a diminutive premaxilla. Of the eight infants with bilateral complete cleft lip, one had an intact secondary palate. The features were the same as in patients with unilateral cleft, but with a more severely hypoplastic nasal tip, conical columella, tiny prolabium, underdeveloped lateral labial elements, and small/mobile premaxilla. Central midfacial hypoplasia and hypotelorism did not change during childhood and adolescence. Intermedial canthal measurements remained 1.5 SD below normal age-matched controls. Skeletal analysis (mean age, 10 years; range, 4 months to 19 years) documented maxillary retrusion (mean sagittal maxillomandibular discrepancy, 13.7 mm; range, 3 to 17 mm), absent anterior nasal spine, and a class III relationship. The mean sella nasion A point (S-N-A) angle of 74 degrees (range, 65 to 79 degrees) and sella nasion B point (S-N-B) angle of 81 degrees (range, 71 to 90 degrees) were significantly different from age-matched norms ( = 0.0007 and = 0.004, respectively). The ipsilateral central and lateral incisors were absent in all children with unilateral cleft, whereas a single-toothed premaxilla was typically found in the bilateral patients. Several modifications were necessary during primary nasolabial repair because of the diminutive bony and soft-tissue elements. All adolescent patients had Le Fort I maxillary advancement and construction of an adult nasal framework with costochondral or cranial graft. Other often-used procedures were bony augmentation of the anterior maxilla; cartilage grafts to the nasal tip and columella; and dermal grafting to the median tubercle, philtral ridge, and basal columella. Infants with complete unilateral or bilateral cleft lip/palate in association with nasolabiomaxillary hypoplasia and orbital hypotelorism do not belong on the holoprosencephalic spectrum because they have normal head circumference, stature, and intelligence, nor should they be referred to as having Binder anomaly. The authors propose the term cleft lip/palate for these children. Early recognition of this entity is important for counseling parents and because alterations in standard operative methods and orthodontic protocols are necessary.