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PubMed1993

Two patients with multiple facial clefts including cleft lip and palate.

Report of 2 patients with cleft lip and palate and multiple facial clefts are described using the anatomical classification of Tessier. The first patient was severely polymalformed, with heart, vertebral, and facial malformations. He was examined clinically and with an experimental three-dimensional computer reconstruction that identified an association of a classic cleft lip and palate with cleft nos. 4 and 11 on the right side and cleft nos. 3 and 11 on the left. The second patient, a partial form, with cleft lip and palate and cleft nos. 3 and 11 on the right side, also presented with bilateral cleft no. 7, preauricular tags, and an important microgenia. This second patient was operated for the cleft lip using the principles of Millard and Onizuka with a supplementary Z plasty. We comment on the difficulties of delimitation and treatment when the clefts are very close together and the difference in "quality" of the tissues compared with classic cleft lip and palate.

Abnormalities, Multiple↗
PubMed1983

Congenital cleft lip and palate in Singapore.

Cleft lip and palate is the most common congenital abnormality seen in the Department of Plastic Surgery, Singapore General Hospital. A total of 461 operative cases seen over a period of 5 years (1977 to 1981) is analysed. There is a relatively high incidence in the Singapore population of 2.0 per 1000 live births. In both cleft lip and cleft palate deformities, there is no significant difference in the sex distribution. The cleft patterns show that 78% of the cases are unilateral clefts, 53% are left sided, 25% are right sided and 22% of the cases are bilateral clefts.

Asian People↗
PubMed2006

The premaxillary triangle: clue to the diagnosis of cleft lip and palate.

OBJECTIVE: The prenatal detection rate of cleft lip and palate is low, especially in low-risk patients who undergo targeted sonography. The reason is that evaluating surface anatomy is relatively difficult and requires operator expertise. Our purpose was to describe a technique to improve the diagnostic accuracy of facial clefts (lip and palate) and to assess the feasibility of including this technique as part of standard protocol during targeted imaging. METHODS: A prospective study was done during 2000 through 2002 to evaluate the accuracy of the "premaxillary triangle (PMT) sign": a new sign to diagnose unilateral cleft lip and palate in women referred for prenatal sonography at our center. Patients with only isolated unilateral cleft lip and palate and cleft lip were included in this study. Before this, all examiners were trained to image the PMT. The images were reviewed by a senior consultant. It was later decided to include this sign as part of the protocol of targeted sonography done between 18 and 22 weeks in our institution. However, depending on the fetal position, the PMT was documented even in patients referred for the first time in late second and third trimesters. RESULTS: Twenty-nine cases of isolated facial clefts were diagnosed during the study period, of which 2 had unilateral cleft lip and 27 had unilateral cleft lip and palate. The PMT sign was absent in all cases of unilateral cleft lip and palate but was present in 2 cases of isolated cleft lip without cleft palate. CONCLUSIONS: The PMT sign can be easily incorporated into targeted sonography at 18 to 22 weeks' gestation. Its inclusion would help in increasing the detection rate of unilateral cleft lip and palate. It may also be potentially used for differentiating between isolated cleft lip and cleft lip and palate, which helps in better prenatal counseling.

Cleft Lip↗
PubMed1993

Soft tissue response to orthognathic surgery in persons with unilateral cleft lip and palate.

Individuals with cleft lip and palate often require orthognathic surgery to establish facial harmony and optimal occlusal function. Surgery to the skeletal components of the face can accomplish predictable alterations in jaw relations. The soft tissue response to those skeletal movements, however, is difficult to predict, as it is also for the noncleft individual. In addition there is the variability of the repaired cleft lip. The study included 30 persons with complete unilateral cleft lip and palate, operated for midface deficiency using a Le Fort I maxillary advancement at a mean age of 18.0 years. Some relapse occurred in the immediate postoperative period, but after 1 year the mean advancement of the maxilla was 4.9 mm (best fit of anterior maxilla) and 5.6 mm (incisal edge). Both skeletal and soft tissue changes were negligible after that time. The ratio of upper lip advancement to underlying incisor advancement was 0.65 to 1. Although the lip response was highly correlated to the underlying bony movement, the variation was sufficient to preclude accurate prediction. The upper lip thinned with maxillary advancement, but this was not related to the original lip thickness. Coincident mandibular surgery had no appreciable effect on upper lip movement.

Adolescent↗
PubMed2002

Assessment of bilateral cleft lip nose deformity: a comparison of results as judged by cleft surgeons and laypersons.

Reconstruction of bilateral cleft lip nose deformity is difficult and the outcome is inconsistent. This study was conducted to evaluate the gross outcome and the difference in the assessment of nasal appearance as judged by two groups of raters, cleft surgeons and laypersons. Sixty-four patients with bilateral cleft lip were selected for review. The patients' ages ranged from 5 to 30 years. All patients had undergone primary cleft lip repair and secondary nasal reconstruction, and had been followed for at least 6 months. One image for each patient, which included a digitized frontal, lateral, and worm's-eye view, was projected for evaluation by the raters. The raters included five cleft surgeons and five laypersons. A rating scheme was used in which a score of 3 was given for a good, close to normal nasal appearance, 2 for an average result that needed minor revision, and 1 for a poor result that needed major reconstruction. The scores were averaged for each patient in each group and for each group as a whole. The final outcome was judged as good, fair, or poor on the basis of the mean score for each patient. Statistical analysis was performed. The mean score for all patients was 2.08 as assessed by the laypersons and 2.18 as assessed by the cleft surgeon group. There was no statistically significant difference between the two groups. Comparisons on rating scores among different raters revealed a fair agreement on the ratings within each of the two groups. The results were found to be good in 29.7 percent, fair in 64.1 percent, and poor in 6.3 percent of patients when evaluated by the surgeons. When rated by the laypersons, the nasal appearance was found to be good in 26.6 percent, fair in 60.9 percent, and poor in 12.5 percent of patients. This difference in distribution between the two groups was not statistically significant. When comparing the results given by the two groups of assessors, there was agreement on the nasal appearance in 65.6 percent of patients, and a difference in grading in the rest. For the patients who received different grading, the surgeons rated them one grade higher in 63.6 percent and one grade lower in 36.4 percent. There was no difference in grading between any of the evaluators that reflected a two-grade discrepancy in evaluation of results. This study shows that the surgical outcome of bilateral cleft lip nose deformity repair, at the authors' institution, is less than optimal. When assessing bilateral cleft lip nose appearance, the judgment of results by cleft surgeons was similar to that of the laypersons. However, different rating of results existed within each of the two groups, supporting the importance of clearly assessing patient/parent expectations and defining realistic surgical goals.

Adolescent↗
PubMed2004

The complex genetics of cleft lip and palate.

Clefts of the lip and palate are a common craniofacial anomaly, requiring complex multidisciplinary treatment and having lifelong implications for affected individuals. The aetiology of both cleft lip with or without cleft palate (CLP) and isolated cleft palate (CP) is thought to be multifactorial, with both genetic and environmental factors playing a role. In recent years, a number of significant breakthroughs have occurred with respect to the genetics of these conditions, in particular, characterization of the underlying gene defects associated with several important clefting syndromes. These include the identification of mutations in the interferon regulatory factor-6 (IRF6) gene as the cause of van der Woude syndrome and the poliovirus receptor related-1 (PVRL1) gene as being responsible for an autosomal recessive ectodermal dysplasia syndrome associated with clefting. While no specific disease-causing gene mutations have been identified in non-syndromic clefting, a number of candidate genes have been isolated through both linkage and association studies. However, it is clear that environmental factors also play a role and an important area of future research will be to unravel interactions that occur between candidate genes and environmental factors during early development of the embryo. Orthodontists are intimately involved in the therapeutic management of individuals affected by CLP and it is important that they keep abreast of current knowledge of the aetiology behind these conditions. This review aims to summarize some of the more significant advances in the genetics of CLP and highlight current thinking on the modes of inheritance and genetic loci that might be involved in this complex disorder.

Cleft Lip↗
PubMed2005

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father). The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH) diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate). Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations.

Cleft Lip↗
PubMed1994

Palatal changes after lip surgery in different types of cleft lip and palate.

This study concerns palatal development during 6 months following primary lip closure. The sample consisted of 75 children with different forms of cleft lip and palate and 51 noncleft children. The palate was measured at 3 months of age, just before lip surgery, after surgery at 6 months, and again at 9 months of age. The results showed that lip closure has a strong effect in the anterior alveolar region. This effect was restricted to 3 months after surgery. The changes in complete clefts were more explicit than in incomplete cleft forms. Furthermore, the data showed that arch depth reduction due to lip surgery was compensated for by continued anteroposterior palatal growth. Early orthopedics appeared to prevent major palatal collapse immediately after lip surgery. Finally simultaneous closure of the alveolar cleft at the nasal side resulted in continued reduction of anterior cleft width.

Case-Control Studies↗
PubMed2006

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.

OBJECTIVE: The RYK, EPHB2, and EPHB3 genes are attractive candidates for cleft lip and/or palate and cleft palate only pathogenesis. Both the Ryk-deficient mouse and Ephb2/Ephb3 (genes for interaction molecules with RYK) double-mutant mouse show cleft palate. SETTING: Mutation searches for RYK, EPHB2, and EPHB3 were carried out in a large number of Japanese and Vietnamese patients with cleft lip and/or palate and cleft palate only. Case-control study and transmission disequilibrium tests were performed also, using three single nucleotide polymorphisms within a linkage disequilibrium block in RYK. Seven haplotypes were constructed from the single nucleotide polymorphisms. RESULTS: A missense mutation, 1355G>A (Y452C), in RYK was identified in one Vietnamese patient with cleft lip and/or palate. This mutation was not found among 1646 Vietnamese, Japanese, and Caucasians, including 354 cleft lip and/ or palate and cleft palate only patients. Colony formation assay using NIH3T3 cells transfected with mutant cDNA revealed that mutant RYK had significantly reduced protein activity, compared with those with wild-type RYK, implying that the transformation ability of RYK is depleted by this mutation. Although a case-control study and transmission disequilibrium tests on three individual single nucleotide polymorphisms provided no evidence for association with oral clefts, a case-control study on one rare haplotype suggested a positive association in Japanese patients with cleft lip and/or palate and cleft palate only. No mutations in EPHB2 and EPHB3 were found in any patients examined. CONCLUSION: The findings suggested that a missense mutation, 1355G>A, and one rare single nucleotide polymorphisms haplotype may play a role in the development of cleft lip and/or palate in the Vietnamese, and cleft lip and/ or palate and cleft palate only in the Japanese.

3T3 Cells↗
PubMed2006

Antenatal transabdominal ultrasound detection of cleft lip and palate in Western Australia from 1996 to 2003.

OBJECTIVE: To determine the frequency of detection of cleft lip with or without cleft palate and isolated cleft palate from antenatal ultrasound examinations conducted on mothers of infants born with cleft lip and/or palate and isolated cleft palate in Western Australia from 1996 to 2003. DESIGN: Review of patient records and purpose-designed questionnaire sent to parents of children born with cleft lip and/or palate and isolated cleft palate. RESULTS: There were 308 infants born with cleft lip and/or palate and isolated cleft palate in the study period. Of the 293 parents, 218 responses were available for the study (70.7%), and 2.9 +/- 1.8 SD antenatal ultrasound scans were performed on 216 women. No such scans were performed on two women. Cleft lip and/or palate was detected in 22.2% of cases. There was no detection prior to 15 weeks gestational age in the 137 women screened. Between 15 and 19 weeks gestational age, 174 scans detected 30 cases. Between 20 and 29 weeks gestational age, 84 scans detected 11 cases. Between 30 and 40 weeks gestational age, 66 scans detected 7 cases. The detection rate for bilateral cleft lip and/or palate was 44.4% and for unilateral cleft lip and/or palate, 40.6%. Detection rate for isolated cleft lip was 33.3%. Antenatal ultrasound failed to detect any infants with an isolated cleft palate (n = 95). The rate of detection of cleft lip and/or palate increased through the study period. CONCLUSIONS: The rate of detection of cleft lip and/or palate in Western Australia is comparable to that for referral centers worldwide and is increasing. The rate of detection of the various types of cleft anomalies using antenatal ultrasound ranged from 0% to 44%.

Cleft Lip↗
PubMed2004

An epidemiologic study of isolated cleft lip, palate, or both in Victoria, Australia from 1983 to 2000.

OBJECTIVES: To report the epidemiological characteristics of isolated cleft lip, cleft palate or both (CL +/- P and CP) using population-based data in Victoria, Australia. DESIGN: Descriptive study of a cohort of children born between 1983 and 2000 notified to the Victorian Birth Defects Register by multiple ascertainment sources. PARTICIPANTS: Data were collected on patients identified with CL +/- P and CP without associated defects classified as live births, stillbirths, neonatal deaths, and terminated pregnancies < 20 weeks' gestation following prenatal identification. Information was collected on sex, plurality, maternal age, and country of birth. RESULTS: The overall prevalence (per 10,000 pregnancies) of CL +/- P was 7.8 (95% confidence interval [CI] = 7.30, 8.33; cleft lip [CL] 3.3; 95% CI = 2.97, 3.65, CL+P 4.5; 95% CI = 4.13, 4.91) and cleft palate (CP), 4.3 (95% CI = 3.89, 4.66). The prevalence of CL + P was higher among stillbirths, neonatal deaths, and terminated pregnancies than CL (without CP) and CP. Boys were at greater risk than girls for CL +/- P and girls at greater risk than boys for CP. Regardless of cleft type, there was a nonsignificant excess of clefts among singleton births than multiple births and no related effects of maternal age or country of birth. CONCLUSIONS: The prevalence of isolated CL +/- P and CP in Victoria parallels other population-based studies of the same conditions. Inclusion of stillbirths, neonatal deaths, and terminations had little impact on rates. The effect of sex and plurality on cleft type is consistent with the literature, but the effects of maternal age and country of birth remain equivocal. Further studies focusing on certain ethnic groups are warranted to explain the higher rates observed.

Analysis of Variance↗
PubMed2005

Variation in IRF6 contributes to nonsyndromic cleft lip and palate.

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial birth defect which results in lifelong medical and social consequences. While there have been a number of attempts to identify the genes responsible for this disorder, the results have not been consistent among populations and no single gene has been identified as playing a major susceptibility role. Van der Woude syndrome, a disorder characterized by lower-lip pits with or without cleft lip/palate, results in many cases from mutations in the interferon regulatory factor 6 (IRF6) gene. Recently, Zucchero et al. [2004: N Engl J Med 351:769-780] detected an association between SNPs in IRF6 and NSCLP in a number of different populations. A subsequent study by Scapoli et al. [2005: Am J Hum Genet 76:180-183] confirmed this association in an Italian population. We examined the same SNPs as Scapoli et al. [2005] in our large, well-characterized sample of NSCLP families and trios, and also detected an altered transmission of IRF6 alleles. This additional confirmation further strengthens the IRF6 association and suggests that IRF6 plays a role in NSCLP susceptibility.

Alleles↗
PubMed1990

Experience with the functional cleft lip repair.

The first 12 functional cleft lip repairs performed on unselected consecutive patients immediately following the completion of training by the author are presented. Previous reports on this cleft lip repair have shown excellent results but have always been based on patients operated on by the originator of the procedure. This report gives credence to the ease with which a cleft lip repair that gives reproducible good results can be taught and learned even by plastic surgeons with limited experience. It reviews the technical steps of the procedure, which emphasizes wide undermining and release of the orbicularis oris muscle on the lateral side of the cleft to allow redraping and lengthening of the lip skin, step-by-step layered closure of the mucosa, muscle, and skin, and further vertical lengthening of the lip with a Z-plasty skin closure. Three elements that are difficult to achieve or restore with cleft lip revision are evaluated: (1) achievement of a good skin scar, (2) maintenance of the alar-facial groove, and (3) achievement of adequate lip height without sacrificing horizontal lip length. Ten of the 12 patients had a satisfactory scar, 9 patients had a good alar-facial groove, and all patients had a normal-appearing horizontal lip length. Nine patients required secondary surgery; however, in six patients, this included correction of the nasal deformity that was not corrected at the time of cleft lip repair.

Child, Preschool↗
PubMed1994

[Velopharyngeal closure in adolescents after repair of cleft lip, jaw, palate or isolated cleft palate].

We examined two groups of teenagers (between 13 and 21 years of age) who had been surgically treated as small children for congenital cheilognathouranoschisis or cleft palate. A group of 62 teenagers had been treated by the Dept. of Orthodontics at the University of Erlangen-Nuremberg, the other group of 61 by the Dept. of Orthodontics at the University of Rostock. There were differences between the two departments in sequence and time of the surgical closure as well as in the frequence of velopharyngoplasties. The velopharyngeal closure was examined in all patients by means of a flexible fibre endoscope which was pushed forward endonasally up to the choanae. Simultaneously we judged the audibility of the nasal perflation while pronouncing /k/. A residual gap during articulation of /k/ with clearly audible or alternately clearly and discreetly audible nasal perflation was noted in 8 subjects in Erlangen and 14 subjects in Rostock. In subjects whose velum moved only anterior-posteriorly, closure was likely to be less good than in those with a circular closing mechanism of velum and lateral and/or posterior parts of the pharyngeal musculature. In rare cases we found a good velopharyngeal closure in spite of a large gap between the velum and the posterior pharyngeal wall at rest. This was the case when the velum moved more against the upper than the posterior wall of the nasopharynx. Velopharynxplasty did not reduce nasal airflow in case of insufficient function of the velar muscles. Differences in the mode of velopharyngeal closure might be due to statistically significant regional differences in skull structure.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2001

Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population.

Prior studies have implicated an involvement of the Msx1 homeobox gene in cleft palate in mice and its homolog in humans (called MSX1 in the HOX7 gene, located on chromosome 4). In this study we present evidence of a sex-dependent association between MSX1 and non-syndromic cleft lip/palate (NSCLP) in the Chilean population. The sample included 73 NSCLP cases, 37 from multiplex families (Mx), 36 from simplex families (Sx), and 87 controls. Polymerase chain reaction amplification of the MSX1 intragenic microsatellite (CA)n-sequence shows significant (p = 0.035) differences in the allele frequencies between NSCLP-Mx males and control males. These differences are mainly due to frequency differences in allele *2 (173 base pairs) among cases (21.9%) and controls (13.2%). When the NSCLP cases are subdivided by sex and positive family history (Mx versus Sx), the Mx males (27.8%) as well as the total NSCLP-Mx cases (25.7%) showed significantly higher frequencies of allele *2, compared to controls (11.4% and 13.2%, respectively). Analysis of the genotype data indicates that the relative risk for NSCLP is greater for persons carrying allele *2 (i.e., odds ratio [OR] larger than 1), reaching significance for all Mx cases (OR = 2.67; 95% confidence interval [CI], 1.10 to 6.52) and even more pronounced for Mx males (OR = 3.33; 95% CI, 1.08 to 10.32). Taken together, these findings support the hypothesis that the genetic variation at the MSX1 locus is a predisposing gene involved in sex-dependent susceptibility to clefting and that it also differentiates simplex from multiplex families.

Case-Control Studies↗
PubMed1977

Long-term results in surgical treatment of cleft lips and palates.

Of a total of 3681 operations for hare lip and cleft palate, 139 patients operated between 1951 and 1975 were compared with the aid of exact measurements of the impressions to ascertain whether early orthodontic treatment had an influence on the growing maxilla. 49% of 200 patients who were followed up had normal speach, 39% had minimal disturbances of articulation, in 12% of the patients the speach was poor. In 13 out of 16 of these patients pharyngoplasty improved the speach.

Adolescent↗
PubMed2004

The relationship between hypodontia in the second premolar region and heredity of cleft, lip and palate in children with isolated cleft palate.

The aim of the investigation was to study the relationship between hypodontia in the second premolar region and heredity of cleft lip and palate (CLP) in children with isolated cleft palate (CP). The following null-hypothesis was tested: The heredity for CLP will not give rise to higher prevalence of hypodontia in the second premolar region of the maxilla and the mandible in CP-patients. The material consisted of 188 children born with non-syndromic CP (77 boys and 111 girls). Surgical files initiated at birth and panoramic radiographs at ten years of age have been studied concerning heredity for CLP and hypodontia of second premolars. For all CP-children, irrespective of hereditary background the prevalence of second premolar hypodontia did not differ significantly. However, there was a tendency to higher prevalence of hypodontia of the lower second premolars. The null-hypothesis: The heredity for CLP will not give rise to higher prevalence of hypodontia in the second premolar region of the maxilla and the mandible in CP-patients was not rejected.

Anodontia↗