武汉地区167例先天性唇腭裂临床分析

目的探讨先天性唇腭裂的临床流行病学特征,了解先天性唇腭裂的发病情况,为先天性唇腭裂的深入研究提供数据。方法对我院2008年1月至2013年6月在我院引产及分娩的先天性唇腭裂畸形儿病例进行回顾性分析,并进行统计学处理。结果单纯唇裂、唇裂合并腭裂性别、单双侧比较差异有统计学意义。唇腭裂左右侧比较无统计学意义。唇腭裂城乡分布无统计学意义。唇腭裂家族发病亲缘关系、三种类型比较,差异均无统计学意义。唇腭裂伴发畸形性别比较无统计学意义。结论唇裂合并腭裂最常见。唇腭裂各类型中除单纯腭裂外男性多于女性,单侧多于双侧。唇腭裂家族发病情况与亲缘关系的远近无关。唇腭裂伴发畸形无性别差异。     

Cleft lip and palate incidence among the live births in the Republic of Korea

We present an epidemiologic study of cleft lip and palate in the Republic of Korea from January 1, 1993 through December 31, 1993. In 1993, the number of total live births was 715,817. And from 1993 through 1995, a total of 1,293 new patients with cleft lip and palate who were born in 1993 were identified. The incidence of cleft lip and palate was 1.81 per 1000, that is, 1 per 554 live births. The cleft lip: cleft lip and palate: cleft palate alone ratio was 1.13:1:1.19. The male: female ratio was 2.1:1 in the cleft lip group, and 2.5:1 in the cleft lip and palate group. We could detect a male predominance in both groups. In contrast, the ratio was 0.95:1 in the cleft palate group. The left: right: bilateral ratio was 1.9:1:0.23 in cleft lip group, and the ratio was 2.2:1:1.1 in the cleft lip and palate group. This is the first nation-wide study to provide detailed data on the incidence of cleft lip and palate in the live births in the Republic of Korea.     

Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.

Development of the lip and palate involves a complex series of events that are frequently disturbed resulting in the congenital anomalies cleft lip and cleft palate. Van der Woude syndrome (VWS) is an autosomal dominant disorder that is characterised by cleft lip, cleft palate, lower lip pits, and hypodontia. VWS arises as the result of mutations in the gene encoding interferon regulatory factor 6 (IRF6). To provide insights into the role of IRF6 during embryogenesis, we have analysed the expression of this molecule during mouse and chick facial development. Irf6 was expressed in the ectoderm covering the facial processes during their fusion to form the upper lip and primary palate in both mouse and chick. However, while Irf6 was expressed in the medial edge epithelia of the developing secondary palate of the mouse, which fuses as in man, Irf6 was not expressed in the medial edge epithelia of the naturally cleft chick secondary palate. Similarly, Irf6 was found to be down-regulated in the medial edge epithelia of transforming growth factor beta3-null mice, which also exhibit cleft palate. Together, these results support a role for IRF6 during the fusion events that occur during development of the lip and palate.     

A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3

An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrani, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).     

A family study of isolated cleft palate.

A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.     

实时三维超声产前诊断胎儿典型面裂畸形的临床意义

目的探讨实时三维超声产前诊断胎儿面裂畸形的临床意义,寻求提高胎儿唇腭裂诊断准确性的有效方法。方法应用实时三维超声产前对面裂畸形;唇腭裂胎儿和正常胎儿唇腭部位的二维进行对照。结果 10例正常胎儿面部显示率100%,上牙槽突显示率100%,硬腭显示率70%(7/10)。10例唇腭裂胎儿包括7例单纯唇裂,2例上唇裂合并硬腭裂和1例唇裂合并软腭裂。实时三维诊断了所有7例单纯唇裂,诊断率100%;诊断了单侧唇裂合并腭裂1例,有1例单侧唇裂合并腭裂仅诊断了唇裂而漏诊了腭裂,诊断率70%(7/10),另外1例唇裂合并软腭裂仅诊断了唇裂而漏诊了软腭裂。结论实时三维超声产前诊断对胎儿唇裂,尤其是唇裂合并牙槽突及硬腭裂的诊断具有较大的应用价值,但是对胎儿未合并牙槽突裂的软腭裂及部分硬腭裂做出诊断,仍具有很大的难度。     

HLA Phenotype Frequencies in Individuals with Cleft Lip and/or Cleft Palate

The HLA types of 133 patients with cleft lip and/or cleft palate were determined. Caucasian patients with isolated cleft palate showed a possible association with HLA. Ten of 11 male patients had HLA--A2 as compared to one out of eight female patients (P less than 0.005). Caucasian males with cleft lip and cleft palate had a slight increased frequency of HLA--Aw24 (P = 0.07) and Mexican-American males with cleft lip and/or cleft palate showed an increase of antigen HLA-A28 (P = 0.07), though neither were statistically significant. Females with cleft lip and/or cleft palate from either racial group had no differences from the controls. The serum from 90 mothers of patients with cleft lip and/or cleft palate were reacted against their child's lymphocytes. Of these crossmatch tests, 12% were found to be positive. These preliminary results suggest that male patients with isolated cleft palate are worthy of further studies with respect of HLA associations.     

Cytophotometrical and immunohistochemical analysis of soft palate muscles of children with isolated cleft palate and combined cleft lip and palate

Palatal muscle biopsies from the cleft margin of children were subjected to cytophotometrical and immunohistochemical analysis. Muscle fiber types were classified according to the enzyme activity of myofibrillic adenosine triphosphatase, glycerol-3-phosphate-dehydrogenase and succinate dehydrogenase assessed cytophotometrically. Fiber type-related immunoreactivity of nitric oxide synthase (NOS) isoforms I, II, III, as a physiological modulator of skeletal muscle function, was related to the oxidative and glycolytic activity of the muscle fibers. Fast oxidative glycolytic fibers with high oxidative activity showed strong NOS I immunoreactivity, whereas fast glycolytic fibers with high glycolytic activity were stronger immunolabelled for NOS III. NOS II expression was similar in all fiber types. No differences in NOS immunoreactivity were found between the two investigated forms of deformity. Additionally to the usual skeletal muscle fiber types, a slow tonic fiber type was for the first time identified in cleft palate muscles. Comparison of two forms of cleft palate, isolated cleft palate and combined cleft lip and palate has shown decreased enzyme activities in muscle fibers of palatal muscles from combined cleft lip and palate. Fast oxidative glycolytic fibers were mainly effected. Cytophotometrical and immunohistochemical analysis indicated a depressed performance of the cleft palatal muscles from combined cleft lip and palate as a stronger deformity compared with isolated cleft palate.     

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

A second family is described in which camptodactyly, club foot, and cleft palate (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity. Penetrance appears to be more reduced in females than in males, and cleft palate is the least frequently manifested trait.     

Segregation of HLA in families with oral clefts: Evidence against linkage between isolated cleft palate and HLA

In an earlier study of amilies with two or more sibs affected with a cleft of the lip with or without clefts of the palate, we found no evidence for close linkage of HLA with this malformation. In the present study, we confime our attention to isolated cleft palate, an entity that is genetically distinct from clet palate associated with cleft lip. In 15 sibships with two or more effected sibs, cleft palate, and parental HLA haplotypes assorted independently in the affected sibs, providing evidence against close linkage of this phenotype.     

软腭后推结合带蒂颊脂垫转移修复腭裂的临床应用

目的:探讨软腭后推结合带蒂颊脂垫转移修复腭裂的效果。方法:对裂隙较大或复裂病例采用软腭后推术后,遗留的腭前部创面用带蒂颊脂垫的颊突及体部转移覆盖,碘纺纱条打包固定,术后预防感染处理。结果:5例病人,术后颊脂垫完全成活,无复裂,无颊间隙感染。随访3～6月无复裂,发音改善。结论:颊脂垫血供丰富,带蒂转移结合软腭后推可修复裂隙较大的腭裂或复裂后局部可利用组织较少的腭裂。     

Prenatal diagnosis of an isolated incomplete V-shaped cleft palate using a new three-dimensional ultrasound technique investigation

Objective The objective of this case report is to evaluate the faculty of a recently described original three-dimensional ultrasound technique to detect pathological processes of the fetal palate. Method The palate of the fetus of a patient with a personal history of isolated incomplete cleft palate is evaluated by three-dimensional ultrasound at 34 weeks of gestation. The postnatal findings are compared to the prenatal investigation. Result The used three-dimensional ultrasound technique provides selective visualization of the total hard palate which permits the prenatal diagnosis and multidisciplinary approach of an incomplete cleft palate. Conclusion These prenatal findings might encourage further studies to confirm the value of this recently described innovative technique in the diagnosis and surgical prenatal counselling of fetal cleft palate.     

Dental implant treatment for a patient with bilateral cleft lip and palate

Dental reconstruction in the cleft space is difficult in some patients with cleft lip and palate because of oronasal fistulas. Most of these patients receive a particle cancellous bone marrow (PCBM) graft to close the alveolar cleft, and secondary bone grafting is also required. Treatment options for the alveolar cleft including fixed or removable prostheses require the preparation of healthy teeth and are associated with functional or social difficulties. Recently, the effectiveness of dental implant treatment for cleft lip and palate patients has been reported. However, there have been few reports on the use of this treatment in bilateral cleft lip and palate patients. We report the case of a patient who had bilateral cleft lip and palate and was missing both lateral incisors. She received dental implant treatment after a PCBM graft and ramus bone onlay grafting (RBOG). A 34-month postoperative course was uneventful.     

Facial clefting in an Arab town in Israel

To study the prevalence of cleft palate and cleft lip with or without cleft palate in an Israeli Arab town, questionnaires were sent to the parents of 1375 pupils in grades 1 and 2 in all seven primary schools in the town of Taibe, and 1281 responded. The information requested included data about siblings and members of the parental generation to give a total of 16 174, and the presence of consanguinity and history of exposure to medication, radiation, smoking or alcohol during pregnancy. There were four affected individuals among the index cases, of whom two had cleft palate only and two cleft lip with cleft palate, giving prevalence rates for each of these of 1.56/1000. Adding to these the number of affected siblings gave a total of 10 affected individuals; two with cleft palate only (0.39/1000) and eight with cleft lip with or without cleft palate (1.56/1000). Among the parental generation, of 16 reported affected individuals, two had cleft palate only (0.18/1000) and 14 cleft lip with or without cleft palate (1.26/1000). The overall prevalence rate for all 26 affected individuals was 1.6/1000; four of these had cleft palate only (0.24/1000) and 22 had cleft lip with or without cleft palate (1.36/1000). There were no cases whose mothers had been exposed to medication, radiation, smoking or alcohol during pregnancy. The effect of consanguinity was not significant (P < 0.92). This study shows that the prevalence of facial clefting in an Israeli Arab community is consistent with that in the general population worldwide.     

Cleft palate, brachygnathia inferior, and mandibular oligodontia in a Holstein calf

A case of cleft palate, brachygnathia inferior and mandibular oligodontia is described in a calf. Otitis media may be a complication of cleft palate in the calf as it is in man. Cleft palate in the calf may be further classified into at least 4 major groups and some of the cases might be suitable models for a study of cleft palate in man.     

New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.     

早孕期唇腭裂的超声诊断初探

目的探讨二维颜面部正交叉三切面联合扫查以及三维新技术在早孕期唇腭裂诊断中的应用价值。方法选取2018年6月至2019年7月于宁夏医科大学总医院接受早孕期产前超声筛查的胎儿599例,头臀径(CRL)50~84 mm。首先应用二维超声评估胎儿腭部的3个重要标志,即腭线(正中矢状切面)、上颌骨牙槽突(横切面)和鼻后三角底部(冠状切面)。然后适当放大可疑胎儿以及30例正常胎儿面部图像,采集正中矢状切面三维容积数据,应用TUI、OmniView等技术观察腭部,并给予脱机分析。所有胎儿均进行中孕期超声畸形筛查,并在产后或引产后给予追踪随访。结果本研究599例胎儿共发现7例不同类型的裂缺,其中单侧唇腭裂3例,双侧唇腭裂2例,中央型唇腭裂2例,其余胎儿3个超声标志均没有回声缺失或连续性中断,敏感度为87.5%,特异性为100%,假阳性率为0,假阴性率为12.5%。产前诊断结果均经产后或引产后证实。结论二维颜面部三切面联合扫查可用于筛查早孕期唇腭裂,三维容积数据分析有利于唇腭裂类型的精确诊断。