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PubMed2003

[The monitoring of cleft lip with or without cleft palate in China: 1996 - 2000].

OBJECTIVE: To describe the epidemiological features of cleft lip with or without cleft palate (CL +/- P) in Chinese perinatals. METHODS: From 1996 through 2000, hospital-based cluster sampling method was adopted for collecting data. During that period all live or still births with 28 weeks of gestation or more delivered in monitoring hospitals were assessed within 7 days after birth. RESULTS: The birth prevalence rates of cleft lip (CL) and of cleft lip with cleft palate (CLP) were 5.03/10,000, 8.97/10,000 respectively, then the rate of CL +/- P was 14.0/10,000. The prevalence rates in urban and rural area, in male and female births were 13.28/10,000 and 15.57/10,000, 16.06/10,000 and 11.40/10,000 respectively. Significant difference was found among maternal-age-specific prevalence rates, and the highest one was observed in >or= 35 maternal age group. 87.25% of CL +/- P was isolated forms. No secular trend was found during that period. The perinatal fatality rate of CL +/- P was 19.04%, and the rate in isolated forms was 12.69%, but the rate in syndromic CL +/- P was as high as 62.60%. CONCLUSIONS: No decline trend in prevalence rate of CL +/- P was observed during 1996 approximately 2000. Compared with prevalence rates of CL +/- P in some foreign countries, it was higher in China during same period.

Adult↗
PubMed1991

Operations for microforms of cleft lip.

Microform cleft lip is a mild expression of cleft lip and may be difficult to repair. Its severity may be defined by the degree of downward depression of the nostril rim, skin striae of the upper lip, notching of Cupid's bow, and deformity of the vermilion border. Variation in surgical repair is reported for each type of microform cleft lip.

Cleft Lip↗
PubMed2003

Chromosome 17: gene mapping studies of cleft lip with or without cleft palate in Chinese families.

OBJECTIVE: Involvement of loci on chromosome 17, including retinoic acid receptor alpha (RARA) in nonsyndromic oral clefts has been reported in Caucasian populations, although never investigated in Asian populations. The purpose of the present study was to investigate several loci on chromosome 17, including RARA, in Chinese families. PARTICIPANTS: Thirty-six multiplex families (310 individuals), ascertained through nonsyndromic cleft lip with or without cleft palate surgical probands from hospitals in Shanghai, China, participated in the present study. There were 23 families whose probands had cleft lip and cleft palate (CLP) and 13 with cleft lip alone (CL). RESULTS: Seventeen markers, spanning chromosome 17 and about 10 cM apart were assessed. Logarithm of odds ratio (LOD) scores (two point and multipoint), model-free linkage analyses, and allelic association tests (transmission/disequilibrium, Fisher's exact tests, and chi-square) were performed on the total family sample, families with CLP probands (CLP subgroup), and families with CL probands (CL subgroup). LOD scores from the two-point analyses were inconclusive. Multipoint analyses rejected linkage except for a few regions in the CL subgroup. However, positive results were found using the model-free linkage and association methods (p < .05). The markers with positive results varied across the CL and CLP subgroups. However, the RARA region and loci nearby yielded consistently positive results. CONCLUSION: Genetic variation within the RARA locus or nearby appears to be involved in the pathogenesis of nonsyndromic oral clefts in this population. Furthermore, based on the differing pattern of results in the CL versus CLP subgroups, it appears that the formation of CL and CLP is because of either differing alleles at the same genetic locus or different but related (and/or linked) genes that modify the severity and expression of oral clefting.

Alleles↗
PubMed1992

Configuration of facial profile in adults with cleft lip with or without cleft palate.

X-ray cephalometric studies were carried out in 114 adult males with cleft lip and with or without cleft palate. According to the type and extent of the cleft they were subdivided into 4 groups and were compared with a control group of 50 normal males matched in age. Investigated were the parameters of the skeletal and soft facial profile. The results showed that cleft lip alone is associated with deviations of local character concerning only soft tissues within the oronasal region. The ascertained deviations included a flattening of the nose, reduction of the height, concavity and prominence of the upper lip, increased height of the upper lip vermilion and a more horizontal slope of the columella leading to a reduction of the nasolabial angle. Cleft lip and palate was associated with deviations of global character related predominantly to the extent of retrusion of the upper and lower jaw. The skeletal profile was altered and its deviations were reflected by changes of the soft profile. Of the deviations of soft tissues per se were most important the flattening of the nose and reduction of the height and thickness of the upper lip, which underlined the presence of retrocheilia. Maxillary retrusion was more marked in complete than in incomplete unilateral clefts, while mandibular retrusion and maxillary dentoalveolar retroinclination were more marked in bilateral than in unilateral clefts. Occlusion was always impaired. In unilateral involvement, especially in complete clefts the more horizontal slope of the columella resulted in a marked reduction of the nasolabial angle. Incomplete clefts, similarly as cleft lip alone were not associated with a reduction of thickness of the upper lip and showed an increase of the vermilion height. Because of the persisting protrusion of the premaxilla bilateral clefts were accompanied by only a slight flattening of the skeletal profile and by an excessive nasal depth after the prolongation of the columella. The nasolabial angle was unchanged. The concavity of the upper lip was reduced in complete unilateral and bilateral clefts. Certain characteristics of the oronasal region disclosed a similarity between incomplete cleft lip and palate (in unilateral involvement) and cleft lip alone, however global deviations (due to skeletal changes) were identical with those recorded in complete clefts.

Adult↗
PubMed2006

[Lip, jaw, and palate clefts. Analysis of unilateral cleft lip using 3-D laser topometry].

INVESTIGATION: In most cases it is not sufficient to use photographs and plaster casts to document and analyze the three-dimensional morphology of lip, jaw, and palate clefts. The aim of this study was to evaluate the applicability of surface scanning with a 3-D laser topography scanner in patients with unilateral cleft lip. PATIENTS AND METHODS: Three-dimensional surface scans of the face were performed pre- and postoperatively in 20 patients (3-35 years of age) with a 3-D laser topography scanner. All patients were suffering from nonoperated, one-sided cleft lip, cleft lip-jaw, or cleft lip-jaw and palate. The digital data sets were metrically analyzed and expressed on the basis of quotients, independent of size factors. RESULTS: Using this 3-D laser scanner it was possible to acquire good quality three-dimensional data sets. Measurements were in the dimension of millimeters. Based on the data sets it was possible to provide the three-dimensional cleft morphology with reproducible landmarks and analyze the data. The postoperative symmetry of the face was controlled and objectively quantified. It is disadvantageous however that numerous views need to be taken to get the full image of the face and that the scanning process takes about 2 s. CONCLUSION: The presented 3-D laser scanner renders a precise 3-D surface analysis of the lip and nose region in cleft patients. For lively infants or uncooperative adults, the system is suitable only to a limited extent due to the time-consuming scanning process.

Adolescent↗
PubMed1993

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphthalmia, central cleft-lip and palate and mental retardation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dysplasia-facial cleft (EEC) syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.

Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico with a nonsyndromic form of cleft lip with or without cleft palate were selected for a linkage analysis. A tetranucleotide repeat marker (D2S443) located on the same yeast artificial chromosome as the transforming growth factor alpha locus was tested for linkage to a putative susceptibility Mendelian locus under varying levels of pentrance. No evidence for linkage between D2S443 and a susceptibility locus for cleft lip with or without cleft palate was found. Insight is given to explain this outcome in spite of the statistically significant associations found by other investigators.

Chromosome Mapping↗
PubMed1988

Median cleft lip with bimanual hexadactyly and bilateral accessory toes. Report of two cases in the same family.

The present paper presents two brothers with a median upper lip cleft, associated with postaxial hexadactyly of both hands and feet. Very few similar cases have previously been reported in the literature by various workers. The similarity between the cases reported in the literature and the two cases presented here indicates the existence of a median cleft lip-hexadactyly-syndrome.

Child↗
PubMed1996

The effect of cleft lip repair on maxillary morphology in patients with unilateral complete cleft lip and palate.

This study was performed to investigate the isolated effects of cleft lip repair on maxillary morphology in patients with complete unilateral cleft lip and palate. We compared 10 adult patients with unilateral cleft lip and palate who had only lip repair in childhood and no palatal repair (group 1) with 30 adult patients with unilateral cleft lip and palate who had both their lip and palate repaired in childhood (group 2). Both groups of patients also were compared with 24 adult individuals who had normal occlusion and no cleft anomalies. Evaluation of lateral cephalograms showed that both group 1 and group 2 had significant degrees of maxillary retrusion compared with normal individuals. The magnitude of maxillary retrusion was not increased by cleft palate repair, and none of the cephalometric measurements were significantly different between groups 1 and 2.

Adult↗
PubMed2001

Correction of the bilateral complete cleft lip: transformation to a unilateral incomplete cleft lip closure.

The complete lip alveolus and cleft palate is the most difficult of all bilateral clefts to treat because of the deformity of and tissue insufficiency in the prolabium. A bilateral concomitant procedure is impractical for treatment of this condition because of the problems that have to be resolved postoperatively, including a short columella, a lack of philtrum, labial horizontal and vertical insufficiency, and vermilion and alveolar vestibulum insufficiency. A two-stage procedure called the transformation method has been developed to circumvent these problems, and the authors present it here. With this method one side is closed completely using the maximum amount of tissue available. Concomitantly, incomplete closure is performed on the other side. The result at the end of the first stage of the procedure is a condition approximating unilateral incomplete closure. The results were obtained from 6 patients who underwent complete bilateral closure and were followed for at least 2 years with satisfactory results.

Child, Preschool↗
PubMed2003

Reconstruction of microform cleft lip.

Partial cleft of the orbicularis oris muscle without skin and mucosa can also be called "discontinuity of the orbicularis oris muscle" or "subepithelial cleft". Microform cleft lip or mini-cleft lip are better definitions. We present two women aged 25 and 29 years old who complained of vermilion notching, vertical depression on the upper lip, and asymmetry of lower lateral cartilage of the nose. The "discontinuity of the muscle" was found at operation in both cases and reconstructed successfully.

Adult↗
PubMed1993

A preliminary report on one stage open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate: the Alor Setar experience.

This paper is a preliminary report on a strategy to perform open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate deformity. This method was devised to suit unique socio-economic circumstances in the Malaysian centre of Alor Setar. Of 8 cases having surgery in 1991, 7 returned for follow-up with results being documented photographically. It is concluded that this aggressive approach is justified in severe bilateral cleft lip and palate deformity because of the cost effectiveness of limiting the number of interventions. Furthermore, it provides optimally orientated nasal tip anatomy and reduces the social stigma of cleft lip nose appearance from the earliest possible time in the child's development.

Child↗