Fetal mortality and cleft lip with or without cleft palate

Analysis of fetal mortality in sibships of 406 probands with cleft lip with or without cleft palate (CL(P)) indicates that the incidence of fetal mortality is significantly greater in sibships of probands with bilateral CL(P) than in those of unilateral CL(P). The difference is even greater when fetal mortality in sibships of male probands with unilateral CL(P) is compared with that of female probands with bilateral CL(P). These findings support a multifactorial two-threshold concept in which a lower level of liability results in clefting while a higher level of liability causes fetal mortality.     

Nasal airway and septal variation in unilateral and bilateral cleft lip and palate

Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7–18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post‐hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non‐clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity. Clin. Anat. 27:999–1008, 2014. © 2014 Wiley Periodicals, Inc.     

唇腭裂相关基因研究进展

唇腭裂是一种常见的先天性畸形,其病因非常复杂,目前倾向认为是由多种基因和环境因素共同作用的结果。常见的引起唇腭裂相关的基因有TGFA,TGFβ3, BCL3, F13A等;环境因素在唇腭裂发生中的遗传修饰作用也很重要,主要的环境激发因素包括致畸因子（如烟草、酒精、糖皮质激素等）、感染和营养缺乏。基于基因打靶技术建立的鼠基因敲除模型很好地模拟了人类疾病的表现型,成为研究唇腭裂的一种强有力手段。     

Removable partial denture in a cleft lip and palate patient: a case report

This clinical report described the oral rehabilitation of a cleft lip and palate patient with removable partial denture. Although implant-supported fixed treatment was presented as part of the optimum treatment plan to achieve the best result, the patient declined this option due to the significant financial burden. Persons with a congenital or craniofacial defect are unique, and oral problems must be evaluated individually to the most ideal treatment. The changes in appearance, function, and psychological wellbeing have an enormous impact on patients' personal lives and are rewarding for the maxillofacial prosthodontist providing this care.     

Conjoined twins discordant for cleft lip and palate

Female thoraco-omphalopagus twins were of equal size and had similar abnormalities related to the twinning site. However, one twin was more severely affected and also had cleft lip and palate which the co-twin did not have. The implications of this are discussed.     

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs

Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.     

Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate

Mitchell LE, Risch N. Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate. Clin Genet 1993: 43: 255–260. © Munksgaard, 1993 Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non-syndromic cleft lip with or without cleft palate (CL \pm P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first-degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25-3.19). A positive family history of clefting increases the risk to siblings by greater than 4-fold (O.R. =4.49; 95% C.I. 2.74-7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the ‘at risk’ population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases. Furthermore, our findings indicate that the power to detect linkage between a genetic marker or a candidate gene and CL \pm P will increase if the study population is ascertained through individuals with bilcteral clefts of the lip, rather than through individuals with either unilateral or bilateral CL \pm P.     

Anomalies associated with cleft lip, cleft palate, or both

Numerous investigators have reported on a low frequency of other anomalies in patients with cleft lip, cleft palate, or both. The data have been somewhat inconsistent, ranging from a 3% to over 30% frequency of associated malformations. However, a recent study concluded that over half of the children with clefts at a large metropolitan center have associated anomalies. In an effort to elucidate further the genetic and morphologic characteristics of patients with clefts, 1,000 patients with clefts of the lip, palate, or both were examined and reviewed. The results indicate that associated anomalies occur in 63.4% of the sample. Approximately half of the patients with multiple anomalies have recognized syndromes, sequences, or associations, while the other half have physical examination (apparently one-of-a-kind) syndromes. The high frequency of associated anomalies has obvious implications for the genetic counseling offered to all patients at cleft palate and craniofacial centers. The frequency of associated anomalies also raises questions regarding the validity of past genetic research involving populations of subjects with clefts.     

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.     

Informative morphogenetic and phenogenetic variants in children with cleft lip/cleft palate

In 230 patients with nonsyndromic cleft lip/cleft palate (138 boys and 92 girls) and in 226 age related healthy children (137 boys and 89 girls) informative morphogenetic and phenogenetic variants (IMV and PHV, respectively) were investigated. There was no difference between the number of IMVs between both groups (χ² = 5.89; d.f. = 3; α > 0.70). This finding is in line with the hypothesis that facial cleft disorders occur during blastogenesis, whereas IMVs and PHVs are typical patterns of the embryo- and fetogenesis. The anthropometric findings are contradictory. In a few non-craniofacial phenogenetic variants significant differences were found between the patients and the healthy children. Intrinsic factors or secondary sequelae of the primary defect might additionally act in the morphological fine tuning of children with single cleft lip/cleft palate. © 1996 Wiley-Liss, Inc.     

Ectrodactyly, cleft lip/palate syndrome

We report on a Brazilian boy with ectrodactyly, cleft lip/palate, and abnormal pinnae. The clinical aspects involving this patient strongly suggest those reported by Lewis and Pashayan in 1981. Clinical and genetic aspects are discussed.     

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。