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At least 577 records · Page 32Linked to original sources
PubMed2003

[Familial cleft lip with or without coexisting cleft palate].

Etiopatology of clefts has not been explained yet. It is assumed that the cause of this defect is complex and heterogeneous. Genes which induce the incidence of cleft have not been detected too but clinical observations indicate a familial predisposition. At the Plastic Surgery Clinic of the Łódz Medical Academy, on years 1972-2001, 3180 children with cleft lip or/and palate were being treated. The group under examination consisted of 540 children with positive family histories. Two genetic groups were confirmed and each of them with a different risk of the reoccurrence of the defect. The first group--cleft lip and palate, the second group--an isolated cleft palate. A correlation between the type of cleft and a child's sex and its cleft affected parent was found. Among children of mothers with cleft lip there were 60% of boys and only 15% of girls with the same type of cleft. In mothers with cleft lip and palate the same type of cleft has been detected in 70% of boys and 18% girls. Similar results were obtained when affected fathers were taken into account. However, in case of mothers and fathers who were affected with isolated cleft palate there were significantly more girls than boys who had cleft palate. An in-depth study of cleft inheritance mechanisms will make in the future a more precise prediction of the occurrence of the defect in consecutive generations possible. Perhaps, the chance to work out cleft preventions will emerge and the gathered data will be taken advantage of in genetic counselling.

Child↗
PubMed2001

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans occurring with a birth prevalence of approximately 1:1,000. CL/P may be part of a defined syndrome, sequence or association, although most individual or familial cases present as an isolated (nonsyndromic) malformation (NSCL/P). Inheritance is generally regarded as multigenic although, in some families, NSCL/P seemingly segregates as a monogenic trait. On the other hand, van der Woude syndrome (vWS) is a rare autosomal dominant with cardinal features of lower-lip pits (LLP) and CL/P or cleft palate (alone). Since none of these traits is present in all mutation carriers, some individual or familial vWS cases, especially those lacking LLP, are indiscernible from NSCL/P, raising the question whether allelic variation at the vWS locus could underlie NSCL/P. This question was addressed using parametric linkage (LOD score) analysis in 21 multiplex NSCL/P families based on a tightly linked microsatellite marker (D1S3753), and nonparametric analysis using the transmission/disequilibrium test (GTDT) in 106 NSCL/P triads and selecting markers D1S205, D1S491, and D1S3753. No evidence for linkage of NSCL/P to vWS was found on the 21 families using the LOD score approach. In contrast, TDT yielded a significant P value of 0.04 for D1S205, supporting involvement of vWS in NSCL/P in a complex, modifying/polygenic manner rather than as a monogenic/major disease locus.

Alleles↗
PubMed2000

Congenital heart disease in a patient with microform cleft lip.

OBJECTIVE: Microform cleft lip (MCL), also known as congenital healed cleft lip, is a rare anomaly that is thought to be a spontaneously healed variant of the more common clefting of lip and palate. Although conventional clefting is known to be associated with congenital heart disease (CHD), MCL has not been similarly associated. We present one patient with MCL and CHD in the form of coarctation of the aorta, an association not previously described. CONCLUSION: As is done in patients with cleft lip, cleft palate, or both, patients with MCL should be carefully examined for evidence of CHD and referred to a pediatric cardiologist if deemed advisable.

Aortic Coarctation↗
PubMed2005

Nasal airway dimensions of adults with cleft lip and palate: differences among cleft types.

OBJECTIVE: To determine the nasal airway dimensions in adults with repaired cleft lip and palate by rhinomanometry and to analyze the reduction associated with different types of clefts. MODEL: A prospective analysis comparing three types of previously repaired clefts: bilateral cleft lip and palate (BCLP), unilateral cleft lip and palate (UCLP), and isolated cleft palate (CP) at the 5% level of significance. SETTING: Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. PARTICIPANTS: Fifty-three subjects aged 18 to 35 years (17 BCLP, 16 UCLP, 20 CP) and a group of 20 individuals without cleft (N). VARIABLES: Minimum cross-sectional nasal area assessed by posterior (PR) and anterior (AR) rhinomanometry and nasopharyngeal area assessed by modified AR. RESULTS: Mean (+/- 1 SD) nasal areas obtained by PR were: 0.47 +/- 0.16 cm(2) (BCLP), 0.57 +/- 0.19 cm(2) (UCLP), 0.61 +/- 0.13 cm(2) (CP), and 0.60 +/- 0.10 cm(2) (N). The mean value for the BCLP group was significantly smaller than that for the N and CP groups. The remaining values did not differ from one another. The proportion of subjects with subnormal areas obtained by PR was 41%, 19%, and 0% for groups BCLP, UCLP, and CP, respectively. Similar results were obtained by AR. All subjects presented a nasopharyngeal area larger than 0.80 cm(2), denoting absence of obstruction in the nasopharynx. CONCLUSIONS: In adulthood BCLP is the type of cleft associated with a greater reduction of nasal airway, compared with UCLP and CP, suggesting that adults with BCLP are at a greater risk for nasal obstruction.

Adult↗
PubMed1997

Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal.

An association between nonsyndromic cleft lip with or without cleft palate (CL +/- P) and genetic variation at the transforming growth factor alpha (TGFA) locus was originally reported in 1989. Subsequent population-based studies of this association have provided conflicting results. The present analyses were undertaken to determine if the cumulative weight of the available data convincingly supports or refutes this association. The published data were analyzed for differences in allele frequencies between Caucasian CL +/- P patients (i.e., cases) and controls, and for heterogeneity between Caucasian samples. When all data except the original report were considered, there was a statistically significant association between TGFA and CL +/- P (M.H.O.R. = 1.43; 95% C.I. 1.12-1.80). However, there was evidence of significant heterogeneity in the TGFA allele frequencies between cases, but not controls, from different studies. The data suggest that the observed heterogeneity is unlikely to be attributable to differences in the ethnic composition of the cases among the various studies but may reflect differences in the proportion of cases with bilateral lip defects and/or with positive family histories of CL +/- P. Definitive conclusions regarding the source(s) of the observed heterogeneity could not, however, be drawn on the basis of the available data. Hence, at present, the evidence regarding an association between genetic variation at the TGFA locus and CL +/- P remains inconclusive.

Alleles↗
PubMed1983

Lip adhesion in bilateral cleft lip.

Surgical correction of bilateral cleft lip deformities remains one of the most challenging areas in facial plastic surgery. This is particularly true with asymmetrical, incomplete-complete clefts; and with symmetrical, complete clefts with marked protrusion of the premaxilla. Although the lip adhesion procedure has been used with success in certain unilateral clefts, its possible role in the bilateral deformity is less well defined and accepted. The purpose of this report is to propose that lip adhesion has advantages in certain bilateral deformities and to describe a technique for one-stage bilateral adhesions.

Cleft Lip↗
PubMed2004

Linkage analysis between BCL3 and nearby genes on 19q13.2 and non-syndromic cleft lip with or without cleft palate in multigenerational Japanese families.

OBJECTIVE: To investigate the linkage between candidate genes on chromosome 19 and cleft lip with or without cleft palate in Japanese using a parametric method. MATERIALS AND METHODS: After informed consent was obtained, blood samples were drawn from 90 individuals in 14 families, 30 of whom were affected, and genomic DNAs were extracted. PCR-amplified products using four microsatellite markers, D19S178, BCL3, APOC2[007/008] and APOC2[AC1/AC2] located in 19q13.2, were separated by 8% polyacrylamide gel electrophoresis. Linkage analysis was carried out using the MLINK and LINKMAP programs, and logarithm of odds (LOD) scores were calculated for each family. RESULTS: Before undertaking linkage analysis, we analyzed 74 healthy Japanese subjects and found racial differences in that the observed number of alleles and their heterozygosity were lower in Japanese than in Caucasians, and that both populations tended to show a different allele distribution. In 14 families, two-point maximum LOD score (Zmax) for BCL3 was 0.341 and multi-point Zmax was less than -2 excluding linkage. But in 9 families with left and bilateral CL/P, two-point Zmax for APOC2[AC1/AC2] was 1.701 and multi-point Zmax at APOC2 locus was 1.909. CONCLUSION: The LOD score was relatively high but provided no evidence of linkage for CL/P to BCL3 and nearby genes in Japanese subjects.

Alleles↗
PubMed2006

[Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C].

OBJECTIVE: To explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of MTHFR C677T and A1298C in Chinese population. METHODS: Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP). RESULTS: As to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 0. 02, P > 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 9.91, P < 0.05). As to MTHFR A1298C, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 4.00, P < 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 4.42, P < 0.05). CONCLUSIONS: The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.

Asian People↗
PubMed2005

Surgical modifications for microform cleft lip repairs.

Microform cleft lips are very rare forms of cleft lips, and the timing and methods of surgical correction remain controversial. We reviewed our surgical methods used between 1991 and 2003. There were eight such cases, with patients ranging in age from 3 months to 9 years, who underwent primary repairs, and their outcomes were evaluated. Two different surgical procedures were used, either a conventional linear incision, lower small triangular flap insertion, and orbicularis oris muscle reconstruction, or the two small z-flap approach in which the central philtral muscles are repositioned over the affected philtrum by way of two small z-flaps. Six cases underwent the former procedure, and two cases received the latter. The two small z-flap method was used in milder and more subtle skin furrow cases. There was at least 18 months of follow-up with no noticeable sex distinction or timing of the surgery compared with other cleft lip types. Orbicularis oris muscle reconstruction by way of the intra-oral approach together with vermillion repairs using z-plasty demonstrated satisfactory postoperative results such as nostril symmetry, disappearance of the linear furrow and vermillion notches, and reduced prominence in comparison with conventional small triangular flap repairs, which are used for regular primary cleft repairs at our institute. Small z-flap and muscle repositioning cases, both surgically repaired in infancy, were successfully corrected without noticeable scars in most white lips. Our surgical modification for microform cleft lip repairs is recommended for infant patients to avoid cicatrices in most white lips, especially in milder cases.

Child↗
PubMed1994

Preoperative lip taping in the cleft lip.

For the past 16 years, the senior author has used a nonsurgical method of mobilizing and approximating the soft tissues of the lip, nose, and maxilla before primary cleft lip repair. This has been accomplished effectively and inexpensively with the use of surgical tape applied to the lip across the cleft shortly after birth. The method used in applying the tape will be described. In addition to the positive soft-tissue effects, we found that lip taping effectively narrows, remodels, and approximates the alveolar arch, eliminating the need for initial orthodontia in all patients except those born with maxillary collapse. Lip taping accomplishes all of the goals of surgical lip adhesion at a fraction of the cost and eliminates the potential risk involved in one additional operation.

Alveolar Process↗
PubMed2000

Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.

OBJECTIVE: To analyze linkage of five candidate regions for nonsyndromic cleft lip with or without palate (CLP) on chromosome 2p13, 4q, 6p23, and 19q13; in addition chromosome 1q32, the locus for van der Woude syndrome, on Swedish CLP families. DESIGN: Three to five linked microsatellite markers were selected from each candidate region. Polymerase chain reaction (PCR) with fluorescent-labeled microsatellite markers was performed on DNA samples from the participating families. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. The genotype data were analyzed with multipoint linkage analysis. Modes of inheritance tested included two autosomal dominant, an autosomal recessive, and a nonparametric model. Multipoint logarithm of odds (LOD) scores were also calculated by assuming genetic heterogeneity. PARTICIPANTS: Nineteen Swedish multigenerational families with at least two first-degree relatives affected with CLP. Greater than 50% of the families studied show vertical transmission of the clefting phenotype and both inter- and intrafamilial variability were noted. RESULTS: Cumulative multipoint LOD scores for the whole group of families calculated under autosomal dominant modes of inheritance were negative in all regions and less than -2 except chromosome 6p23. LOD scores calculated under recessive inheritance and the nonparametric model were inconclusive. There was no significant evidence of genetic heterogeneity among the sample group. CONCLUSIONS: The group of Swedish CLP families did not demonstrate significant linkage to any of the five candidate regions examined. This might suggest a new but yet unknown CLP locus or loci in this family group. However, because linkage could not be excluded in some individual families, they should still be tested with candidate genes from these regions.

Chromosome Mapping↗
PubMed1993

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

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 +/- 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.(ABSTRACT TRUNCATED AT 250 WORDS)

Cleft Lip↗