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Results for “CLEFT LIP”

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At least 631 records · Page 35Linked to original sources
PubMed1988

Cleft lip and palate in Denmark, 1976-1981: epidemiology, variability, and early somatic development.

The present investigation describes the incidence and variability of the primary cleft condition in all Danish infants born with cleft lip, cleft palate, or both, from 1976 to 1981 and analyzes general somatic growth from birth to age 22 months. Because of excellent sampling conditions in Denmark, the study material is nearly complete. Six hundred and seventy-eight infants with facial clefts were born during the period, corresponding to 1.89 per 1,000 of all newborns. Six hundred and two patients were examined--most of them twice: at 2 months and at 22 months. Material uptake included plaster casts of the upper jaw, cephalometric films in three projections, anthropometric registrations, and information from hospital charts. A detailed grading of the clefts according to severity was carried out. Sex distribution was 61% males and 39% females, of whom 34% had isolated cleft lip, 39% combined cleft lip and palate, and 27% an isolated cleft palate. Left-sided clefts were most frequent. In the combined cleft lip and palate group, 90% exhibited subtotal or total clefts, whereas the clefts were less severe in the isolated cleft lip and isolated cleft palate patients. Birth weight and length showed values close to the average for Danish newborns, but a lag was seen in infants in whom severe palatal cleft was included. The extended method of classification was suggested to select subgroups for special care.

Body Height↗
PubMed1988

Perceptions of appearance and speech by adolescent patients with cleft lip and palate and by their parents.

This study surveyed 102 patients with cleft lip, cleft palate, or cleft lip and cleft palate (ages 13 to 19) and their parents to assess satisfaction with appearance, speech ability, and intelligibility. The data were based upon standardized interviews conducted at a cleft palate treatment center, using simple questions with high face validity. Surgical experience was high among this sample, as reflected by the finding that the majority of patients (55.7%) had had three or more operations on the face or mouth. Patient ratings of facial appearance showed that most patients were very pleased (59.3%) or moderately pleased (13.2%); others were somewhat (18.7%) or very (8.8%) disappointed. Many parents indicated that their children expressed occasional (22.0%) or frequent (27.5%) concerns about appearance. Nearly all patients (91.9%) felt that their operations had accomplished what they expected, though some of the cleft lip patients (35.7%) and their parents (43.9%) were less than very pleased with the appearance of the lip. When asked how pleased they were with the way they presently talked, most patients (69.1%) were very pleased, though some disappointment was expressed. Although often pleased with their current speech status, many patients rated themselves as only moderately understandable (19.1%) or as not understandable (8.5%). No significant gender effects were found in satisfaction, appearance, or speech ratings. There were no significant differences found between parent and child ratings. The findings indicate that at a center delivering team-based cleft palate care, both adolescent patients and their parents have considerable concerns about appearance and speech results.

Adolescent↗
PubMed2004

A cephalometric evaluation of lower lip in patients with unilateral cleft lip and palate.

OBJECTIVE: The aim of this study was to evaluate cephalometrically the lower lip position and area of patients with unilateral cleft lip and palate (UCLP) comparatively with Class I skeletodental normal subjects. PATIENTS: Lateral cephalometric and hand-wrist radiographs obtained from 24 patients with UCLP (mean age 12.86 years), along with 20 normal individuals (mean age 12.33 years) used as a control group, were examined. DESIGN: In addition to standard cephalometric dentofacial variables, lower lip area (superior, middle, inferior) was also measured using a digital planimeter on the lateral cephalograms. RESULTS: The superior and middle part of the lower lip areas were significantly smaller (p < .05) in the UCLP group, compared to the control group. The inferior and total lower lip areas of patients with UCLP were found to be significantly smaller than controls. The labiomental angle was also smaller (38.79 degrees). CONCLUSIONS: The results suggest that the lower lip of patients with UCLP is smaller, retruded, and curved, with a deep labiomental sulcus, compared with normal individuals during puberty. Therefore, practitioners should focus not only on the upper lip of patients with UCLP but also should consider the lower lip as it was found distinct from normal individuals during puberty.

Case-Control Studies↗
PubMed1993

Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.

Candidate genes and marker loci for cleft lip/palate (CL/P) were tested using linkage analyses and association studies. Eight British families with apparent autosomal dominant inheritance of non-syndromic CL/P participated in the linkage analyses while the association analyses involved 61 unrelated British white people with CL/P and 60 controls. The report of an association between RARA (17q21) and unrelated Australian persons with CL/P (p = 0.016) was not confirmed in British CL/P persons (chi 2 = 0.954, p > 0.1). There was also no evidence of linkage between RARA and the eight CL/P families (Z = -3.211, theta = 0.001). Linkage was excluded between familial CL/P and F13A1 (map position 6p24-25) with an observed maximum lod score of Z = -2.052 at theta = 0.05. No association was found between alleles at VIM (10p13) and the British CL/P subjects (chi 2 = 0.110, p > 0.5). Multipoint analysis excluded linkage between familial CL/P and the markers D1S65 and D1S58 which flank the Van der Woude syndrome locus with a maximum lod score of Z = -4.0. This suggests that the genetic defect underlying VWS is not the same as in non-syndromic CL/P. There was no evidence of linkage between CRTL1 (5q15) and the eight CL/P families (Z = -3.466, theta = 0.05).

Base Sequence↗
PubMed2005

[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population].

BACKGROUND: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology. AIM: To test the possible association due to linkage disequilibrium between microsatellite markers located at less than 1cM from the three candidate genes and nonsyndromic cleft lip/palate using the case-parents trio design. PATIENTS AND METHODS: The sample consisted of 58 case-parents trios. Two microsatellite markers, flanking each one of the candidate genes were analyzed by means of the polymerase chain reaction (PCR) with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. Nonparametric ETDT was used to analyze the genotype data. RESULTS: Significant linkage disequilibrium was detected between D2S443 (TGFA) and NSCLP. Significance was almost reached between D17S800 (RARA) and NSCLP. Alleles 239bp (D2S443) and 172bp (D17S800) showed significant preferential transmission from heterozygous parents to affected offspring. In the case of BCL3 both markers showed no significant results. CONCLUSIONS: The results of the present study do not show clear evidence that TGFA or RARA could be involved in the genetic etiology of NSCLP. Even though the importance of retinoic acid in the development of the embryo is well documented the results obtained for RARA are difficult to analyze. In relation to the possible role of BCL3 in NSCLP, recent information postulates that other genes located in the same chromosome region could be involved in NSCLP.

Alleles↗