先天性腭裂并腭部皮赘1例

先天性唇腭裂患儿常伴有其它部位的先天畸形,如心脏畸形、多指(趾)畸形等.现将我院收治的一例先天性腭裂伴腭部皮赘的病例报告如下.     

完全性腭裂患儿腭部形态15例观察

目的观察完全性腭裂患儿腭部形态特征。方法分析测量比较替牙期腭裂患儿术前与同年龄正常儿童上颌牙弓腭部的长度、宽度、深度和坡度值差异。结果2组的腭部深度和坡度数值存在有显著性差异(P<0.05),而长度及宽度无差异。结论替牙期完全性腭裂患儿术前腭部多呈高拱状。     

腭裂伴发屏气综合征及先心病1例

目的: 探讨腭裂伴发屏气综合征及先心病患儿围手术期的临床处置要点。诊治经过：对腭裂及先心病患儿进行专科检查后确认心功能正常,明确其伴发屏气综合征。分析病情后制定治疗计划,并施行腭裂修复手术。结果: 手术进行顺利,患儿术后恢复良好,术后8个月随访可见软腭形态良好,语音清晰。结论: 在术前严格评估、术中仔细操作、术后密切保护的条件下,屏气综合征伴先心病的腭裂患者可以行外科手术。     

先天性腭裂患儿免疫功能的研究

本文通过123例先天性腭裂患儿免疫功能测定发现,先天性腭裂患儿的细胞免疫缺乏,血液和唾液内补体含量降低,而唾液和血清内IgA和IgG含量升高。所得结果可作为腭裂患儿术前和术后免疫功能检测的一种客观数据。     

上腭及舌畸胎瘤伴腭裂1例

畸胎瘤是一种生殖细胞来源的肿瘤,发生于上腭及舌的畸胎瘤罕见。本文报道1例上腭及舌畸胎瘤伴不完全性腭裂的病例,并结合相关文献对其临床表现、组织病理学特点等进行讨论。     

腭部岛状瓣修复腭裂3例报道

在常规的腭裂修复中 ,除了因腭部裂隙本身过宽外 ,术中设计错误 ,操作不当 ,均可导致鼻侧黏膜关闭困难 ,以致术中就遗留穿孔的隐患。我科应用3例腭部岛状瓣修复腭裂 ,3例为单侧完全腭裂 ,年龄平均为 5岁 ,裂隙最宽者为 2cm ,均采用二瓣法行腭裂根治术。 2例因术者经验不足在裂隙剖开时 ,没有留有足量的鼻侧粘骨膜 ,导致缝合困难 ,其中 1例鼻腔创缘距已超过 1cm ,1例因本身鼻侧粘骨膜过薄 ,分离时不慎出现裂口而不能直接缝合。在此情况下 ,改用腭部岛状瓣修复术。　　基于术前拟行的均为二瓣法修复腭裂 ,可以非常容易决定岛状瓣的切取 ,3例均…     

正常腭及先天性腭裂的对照解剖学研究

正常的腭部及咽部解剖结构是产生正常语音的基础。先天性腭裂整复手术的目的就是 :封闭腭部裂隙 ,恢复腭部生理功能 ,为正常语音创造条件。完善的腭咽闭合是获得正常语音的前提 ,而对腭部肌肉的功能性整复则是产生良好腭咽闭合的基础[1～ 4] 。近年来 ,在对正常及先天性腭裂腭部肌肉应用解剖学研究的基础上 ,使先天性腭裂患者的治疗效果有了显著的提高 ,并逐步形成了一整套比较完善的序列治疗方法[4,5] 。本文仅就近年对正常人及先天性腭裂患者的腭部肌肉应用解剖学研究进展作一综述。一、腭部肌肉的形态和功能参与腭咽闭合的肌肉包括腭肌与…     

先天性牙槽粘连伴腭裂1例

口腔粘连是指上颌骨和下颌骨之间的纤维或软组织粘连,这些粘连可以出现在口腔的不同位置,牙槽粘连为其表现之一。牙槽粘连是一种罕见的先天性畸形,很少独立存在,常伴有其他先天性缺陷,如唇裂、腭裂、微小舌、小颌畸形或颞下颌关节异常,其中腭裂最为常见。现报道1例先天性牙槽粘连伴腭裂患儿,经过手术治疗后创口愈合良好,并讨论其病因及治疗。     

颌面部错构瘤1例

<正>1病例资料患者谢某,女性,56岁,无业。2009-05-04因左侧面颊部肿块1年余来我院就诊。肿块缓慢长大,无疼痛等不适。入院查体:面部左右基本对称,面神经各分支无功能障碍表现。左侧下颌角前下缘颊侧上方可扪及一直径约2cm的肿块,表面光滑,质地中等,界限清楚,活动度较小,无明显压痛,与周围组织及皮肤无明显粘连。双侧颌下可扪及约0.5cm×1.0cm大小的淋巴结,活动,无压痛,颈部未扪及明显肿大淋巴结。     

腭部肌上皮瘤伴发Warthin瘤1例

涎腺肌上皮瘤是一类比较罕见的涎腺肿瘤,由Sheldon[1]首次报道并命名,好发于腮腺和腭部小涎腺。WHO在涎腺肿瘤组织病理类型新分类中正式将良、恶性肌上皮瘤分别列入腺瘤类和癌类,并指出其约占涎腺肿瘤的1%[2]。     

腭黏膜下裂伴先天性硬腭瘘1例报告

腭黏膜下裂伴先天性硬腭瘘临床罕见,迄今国内外文献报道仅10余例。作者报告1例病例,并结合相关文献,对该病的临床特点、诊断、发生率、发病机制及手术治疗进行讨论。本病发病机制不清,临床症状与腭黏膜下裂相似。手术除完整封闭瘘孔外,还应后退异常附丽的软腭肌,重建提肌吊带。术后随访1a,无复裂,腭咽功能改善良好。     

不完全性腭裂伴镜面右位心、内脏反位1例报告

腭裂是口腔颌面部最常见的先天性畸形之一,可单独或合并其他先天性畸形存在,但腭裂合并镜面右位心及内脏反位患者极罕见。本文报告1例不完全性腭裂伴镜面右位心、右位主动脉弓及内脏反位,并结合文献对其临床特点进行了讨论。     

先天性颌间闭锁症唇腭裂幼儿唇裂修复1例报道

报道1例先天性颌间闭锁症伴唇腭裂幼儿修复唇裂的全麻方法及手术效果。通过先天性唇腭裂裂隙,盲插法插入气管导管,全麻下修复先天性唇裂。气管导管插管顺利,麻醉安全平稳,术后效果基本满意,但拔管后白唇显短,红唇凹陷,鼻翼修复困难。     

腭裂与非腭裂小鼠腭突发育的比较形态测量学研究

目的 通过对18三体伴腭裂胚鼠和正常胚鼠大体标本腭突发育、冠状序列连续切片中，不同特征平面内腭突发育的比较测量学研究，认识腭裂与腭突发育的量化关系。方法 借助计算机图像处理系统测定52对处于相同或相近发育阶段的腭裂与非腭裂Han-NMRI小鼠的大体腭突宽度和横截面积，以及30对胎鼠颅上颌复合体冠状序列连续切片（厚度7μm）中腭突宽度及横截面积、腭骨、上颌骨腭突和牙槽突横截面积，并估算腭骨在矢状平面的长度。进一步对腭裂及非腭裂组行量化比较。结果 18三体伴腭裂小鼠大体标本腭突的宽度和面积明显小于正常小鼠；连续序列切片中腭裂小鼠腭突宽度及横截面积，腭骨、上颌骨腭突和上颌突和上颌突横截面积以及腭骨长度均明显小于正常小鼠。结论 18三体伴腭裂小鼠腭突在各个方向均呈严重的发育不足，这是与鼠胚的18三体条件密切相关的。     

Cytokeratin expression in palatal and marginal mucosa of cleft palate patients

OBJECTIVE: The margin of a palatal cleft is a unique anatomical site since the palatal mucosa is continuous with the nasal or nasopharyngeal mucosa. The aim of this study was to compare the expression patterns of cytokeratins and basal membrane components of the mucosa in the area of the cleft. DESIGN: Biopsies from the mucosa of the hard palate and from the cleft margin in the soft palate were obtained from five patients during the primary surgical closure of the cleft. The tissues were processed for haematoxylin-eosin staining and for immunohistochemistry. Antibodies against the cytokeratins (CK) 4, 7, 8, 10, 13, 16 and 18, and the basal membrane components heparan sulphate (HS) and collagen type IV (CIV) were used for immunostaining. RESULTS: The nasopharyngeal epithelium was thinner than the epithelium of the soft palatal mucosa, and showed less interpapillary ridges. The nasopharyngeal epithelium was stratified but expressed the keratins of a simple epithelium (CK 7, 8 and 18). The expression pattern abruptly changed into that of a typical non-keratinized stratified epithelium (CK 4, 13) at the transition to the soft palatal epithelium. The epithelium of the hard palate was a fully differentiated, keratinized and stratified epithelium (CK 10, 16). The basal membrane was thinner in the nasopharyngeal epithelium, which might be related to the presence of abundant inflammatory cells. CONCLUSION: The area around the palatal cleft showed three different types of epithelium. There was an abrupt transition in phenotype of the epithelium from the oral side to the nasopharyngeal side.     

腭裂患者听力减退的分析研究

目的 分析研究腭裂患者听力障碍的影响程度和范围。方法 对22例腭裂术前患者同期进行了钝骨测听,声导抗测试,听脑干反应测试及耳科一般检查。结果 纯音测听听力减退为93.18%,声导抗测试异常的鼓室功能曲线占95.45%,声反射引出率为47.73％,听脑干反应测试,54.55％受试耳的听阈高于正常值,Ⅰ波潜伏期与正常值间有显著性差异,鼓膜内陷为86.36%,咽鼓管咽口呈线型改变达61.36%。结论 多项检测证明腭裂患者听力具有明显异常。     

A case of adult cleft palate patient treatment with differential maxillary lateral expand distraction osteogenesis using combined expansion appliances

A 34-year-old female patient who had undergone surgical treatment for a cleft in the soft palate during childhood received orthodontic treatment for crowding. She had a straight type facial profile and facial asymmetry with a concave area on the left side of the philtrum and mandibular deviation to the left. The surgical scar was observed on the center of the palate. She also had a severely constricted maxillary arch and unilateral cross bite on the left side. In this report, we suggest a novel method for uneven maxillary lateral expansion using a dento-osseous-supported expansion appliance in the frontal side of the maxilla and a modified dental-supported expansion appliance in the mid-palatal area. With this method, we achieved the optimal maxillary expansion in the maxillary frontal and molar areas. As a result of the surgically-assisted orthodontic treatment, facial asymmetry, the facial midline, and severe malocclusion were corrected. Furthermore, the resulting occlusion and facial symmetry were maintained over a 2-year retention period. Although attention must be paid regarding the retention of the expanded maxillary bone, our findings in the present study suggest that differential maxillary lateral expand distraction osteogenesis, which is performed using combined expansion appliances, can be successfully performed in patients with cleft palate.     

Speech outcomes of early palatal repair with or without intravelar veloplasty in children with complete unilateral cleft lip and palate

We compared the early speech outcomes of 40 consecutive children with complete unilateral cleft lip and palate (UCLP) who had been treated according to different 2-stage protocols: the Malek protocol (soft palate closure without intravelar veloplasty at 3 months; lip and hard palate repair at 6 months) (n = 20), and the Talmant protocol (cheilorhinoplasty and soft palate repair with intravelar veloplasty at 6 months; hard palate closure at 18 months) (n = 20). We compared the speech assessments obtained at a mean (SD) age of 3.3 (0.35) years after treatment by the same surgeon. The main outcome measures evaluated were acquisition and intelligibility of speech, velopharyngeal insufficiency, and incidence of complications. A delay in speech articulation of one year or more was seen more often in patients treated by the Malek protocol (11/20) than in those treated according to the Talmant protocol (3/20, p = 0.019). Good intelligibility was noted in 15/20 in the Talmant group compared with 6/20 in the Malek group (p = 0.010). Assessment with an aerophonoscope showed that nasal air emission was most pronounced in patients in the Malek group (p = 0.007). Velopharyngeal insufficiency was present in 11/20 in the Malek group, and in 3/20 in the Talmant group (p = 0.019). No patients in the Talmant group had an oronasal fistula (p < 0.001). All other outcomes were similar. Despite later closure of the soft and hard palate, early speech outcomes were better in the Talmant group because intravelar veloplasty was successful and there were no fistulas after closure of the hard palate in 2 layers.     

非综合征性唇腭裂与亚甲基四氢叶酸还原酶基因A1298C相关性的研究

目的 研究亚甲基四氢叶酸还原酶基因(methylenetetrahydrofolate reductase,MTHFR)A1298C多态性与中国华北人群非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的关系.方法 通过聚合酶链反应-限制性片段长度多态性,在158例NSCL/P患者和192名健康对照中,对MTHFR基因A1298C单核苷酸多态性(single nucleotide polymorphism,SNP)rs1801131进行检测.利用拟合优度卡方检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用Unphased软件分析等位基因频率与NSCL/P的相关性.结果 MTHFR基因A1298C多态性基因型频率分布符合Hardy-Weinberg平衡;等位基因和基因型频率在唇裂合并或不合并腭裂组和健康对照组之间差异无统计学意义;基因型分布单纯腭裂(AA 78%、AC+CC 22%)与健康对照组(AA 74%、AC+CC 26%)比较,差异有统计学意义(χ2＝4.256,P=0.039),AC+CC基因型频率健康对照组(26%)高于单纯腭裂组(22%)(OR=0.8,95%CI=0.381～1.683).结论 MTHFR A1298C多态性位点可能与中国人群非综合征性单纯腭裂的发生有关.

Abstract：

Objective To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate(NSCL/P)in Chinese population. Methods The polymerase chain reaction (PCR)-based restriction fragment length polymorphism(RFLP)technique was used to detect a single nucleotide polymorphism(SNP), rs1801131, at the methylenetetrahydrofolate reductase(MTHFR)gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis. Results The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate(CL/P)and controls. There was significant difference of cleft palate only(CPO)and the healthy individuals(χ2＝4.256, P=0.039). The frequency of AC+CC genotype was higher in control group than that in CPO group(OR=0.8, 95%CI=0.381-1.683),26 among 100 healthy individuals carried AC+CC genetypes,which were carried by 22% of CPO patients. Conclusions The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.