PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “CLEFT LIP”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 613 records · Page 34Linked to original sources
PubMed2006

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.

Cell Adhesion Molecules↗
PubMed2003

Genetics of cleft lip and palate revisited.

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects with treatment including multiple surgeries speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs. Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?" The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.

Adolescent↗
PubMed1988

The importance of embryological research in the surgical management of the cleft lip deformity.

The cleft lip deformity has been present throughout mankind, and has entered into the folklore of Nations. There has been a multitude of described repairs. Still they do not provide the hoped for final results. Some of the changes have been based on "thought out" ideas, others on futile guesses. The last few years have seen changes in the surgical direction due to a clearer understanding of the basic embryology. These changes have been made possible by advances in equipment and technology. Changes in animal research, both intra- and extra-uterine, have made possible experiments which may answer some of the suppositions put forward covering both development and healing. The classification of cleft lip places all the deformities in one group, but there may in fact be several groups with different actual causes and failures leading to the same clinical picture. The understanding of the failure or failures that occur in development should lead to a logical approach to the repair of the cleft deformity.

Cleft Lip↗
PubMed2005

Population-based study on the practice of breastfeeding in children born with cleft lip and palate.

OBJECTIVE: To investigate the practice of breastfeeding and related difficulties in children born in Porto Alegre, Brazil, with cleft lip, cleft palate, and cleft lip with cleft palate. DESIGN: Cohort, observational, and population-based study. POPULATION AND SAMPLE: Mothers of all children born in 2001 and 2002 with cleft lip and palate in the city of Porto Alegre, Brazil (n = 31), were interviewed in their homes. From the information collected, the frequencies of breastfeeding and exclusive breastfeeding in the first year of life were estimated and the median duration was computed according to the type of cleft. A descriptive analysis was used to study the difficulties. MAIN INDICATORS: Initiation rate, pattern, duration, and difficulties of breastfeeding and exclusive breastfeeding. RESULTS: The initiation rate of breastfeeding was 100% and its median duration was 42.5 days. Exclusive breastfeeding was initiated by 67.7% of the sample and maintained for 15 days (median). The breastfeeding duration was significantly higher in the presence of cleft lip, being equal or even superior to (in the case of exclusive breastfeeding) the median of Porto Alegre's general population. The most frequently mentioned difficulties were weak suction, difficulty attaching to the breast, and breast milk escaping through the nostrils. CONCLUSIONS: In spite of the diverse difficulties reported and the lack of professional support after discharge from the maternity wards, the initiation rate and the duration of breastfeeding of children with cleft lip and palate found in this study reinforce the theory that this malformation, especially cleft lip, is compatible with successful breastfeeding.

Adult↗
PubMed1993

Premaxillary protrusion: a sonographic clue to bilateral cleft lip and palate.

Sonograms from 49 fetuses with cleft lip, with or without cleft palate, were reviewed. Among 37 fetuses with adequate pathologic or clinical correlation, 10 (27%) demonstrated premaxillary protrusion, seen as a paranasal echogenic mass. Nine of ten fetuses with a paranasal echogenic mass proved to have bilateral cleft lip and cleft palate. Conversely, only two of 27 fetuses who did not show a paranasal echogenic mass proved to have bilateral cleft lip and cleft palate, and neither of these fetuses showed premaxillary protrusion at birth. Sonographic evaluation of the cleft alone erroneously misclassified eight fetuses with bilateral cleft lip and cleft palate as having unilateral clefts. Premaxillary protrusion is an important clue to the presence of cleft lip and cleft palate and may be more conspicuous than the cleft itself. Furthermore, the presence of a paranasal echogenic mass favors the presence of bilateral cleft lip and cleft palate, even when sonographic evaluation of the cleft itself suggests a unilateral cleft. This information should be useful in the detection and management of fetuses with suspected facial clefts.

Cleft Lip↗
PubMed2004

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

BACKGROUND: Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene. METHODS: We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. A single-nucleotide polymorphism in this gene results in either a valine or an isoleucine at amino acid position 274 (V274I). We carried out transmission-disequilibrium testing for V274I in 8003 individual subjects in 1968 families derived from 10 populations with ancestry in Asia, Europe, and South America, haplotype and linkage analyses, and case-control analyses, and determined the risk of cleft lip or palate that is associated with genetic variation in IRF6. RESULTS: Strong evidence of overtransmission of the valine (V) allele was found in the entire population data set (P<10(-9)); moreover, the results for some individual populations from South America and Asia were highly significant. Variation at IRF6 was responsible for 12 percent of the genetic contribution to cleft lip or palate and tripled the risk of recurrence in families that had already had one affected child. CONCLUSIONS: DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling.

Cleft Lip↗
PubMed2005

Craniofacial development in children with unilateral cleft lip and palate.

Unilateral cleft lip and palate is the most common cleft in humans. We investigated the craniofacial morphology of Turkish children with unilateral complete cleft lip and palate who had operations to close the cleft lip when they were 3 months old and to close the palate at 12 months. They were not given orthopaedic or orthodontic treatment. We compared 42 patients with unilateral complete cleft lip and palate (UCCLP) with 45 control children without UCCLP at mean ages of 13 and 15 years. The children with UCCLP had considerable morphological deviations compared with the matched children without clefts. They had significantly shorter and more posteriorly positioned maxillas (p<0.01). There was also an increase in cranial base angle (p<0.05), mandibular plane and gonial angle (p<0.01). There was a reduction in the posterior facial height (p<0.05) and an increase in the anterior facial height (p<0.01). The profile of the soft tissue was more convex (p<0.001) and the upper lip was thinner than in the children in the control group (p<0.01), and their noses were relatively further backwards and downwards (p<0.01).

Adolescent↗
PubMed1994

Pre-speech in children with cleft lip and palate or cleft palate only: phonetic analysis related to morphologic and functional factors.

Pre-speech in 35 children with clefts of the lip and palate or palate only were analyzed for place and manner of articulation. Transcriptions were made from tape recorded babbling sequences. Two children without clefts were used as reference. All of the children with clefts were treated according to a regimen of early surgical repair of the velum cleft and delayed closure of the cleft in the hard palate. The frequency of selected phonetic features was calculated. Correlations between phonetic/perceptual and functional and morphological factors were tested. Supraglottal articulation dominated among all the children indicating a sufficient velopharyngeal mechanism. The results also showed correlations between cleft type and place of articulation. Anteriorly placed sounds (i.e., bilabial, dental, and alveolar sounds) occurred frequently among the children with cleft palate only and in the noncleft children. In children with cleft lip and palate, posteriorly placed articulations predominated. It was postulated that early intervention may have a positive effect on articulatory development.

Age Factors↗
PubMed2006

Clinical and epidemiologic studies of nonsyndromic cleft lip and palate in china: analysis of 4268 cases.

The aim of our study was to review clinical and epidemiologic characteristic of the nonsyndromic cleft lip and cleft palate over a period of 10 years at West China Stomatological Hospital, Sichuan University. Four thousand two hundred sixty-eight nonsyndromic cleft lip and cleft palate cases were retrospectively analyzed according to the following variables: general information, cleft type, maternal age, familial history, as well as associated malformations, et al. In these cases, 1075 of which were cleft lip, 1985 were cleft lip with cleft palate; 1208 were isolated cleft palate. There were more men than women in the cleft lip and cleft lip with cleft palate group, while there were more women than men in the isolated cleft palate group. There were significantly more unilateral cleft lip cases than cleft lip on both sides; the cases of cleft lip on the left side were more than that of cleft lip on the right side. The cases with inherited history accounted for 6.68% of all the cases. Most infection cases occurred among the deleterious factors and the complications experienced during the first 3 months after the pregnancy. In all of the 14 twin cases, only 1 of the babies was affected. There were totally 152 cases with other associated malformations. Patients with cleft lip born in November to January were less than those born in the other three quarters of the year. Patients of A blood group composed a higher proportion than the control group. Our data may provide references for appropriate resource use, cleft lip and cleft palate prevention programs, and counseling programs with China-specific data.

Adult↗
PubMed1995

Microform cleft lip associated with a complete cleft palate.

Clefting of the lip with or without an associated cleft palate may be present in varying degrees of severity. The so-called microform cleft lip or forme fruste has been characteristically described as having the appearance of a repaired cleft lip. The following case describes a patient with microform cleft lip and a complete cleft of the hard and soft palates. To the best of our knowledge, this is the first report of such an association.

Cleft Lip↗
PubMed2001

Lip movement in patients with a history of unilateral cleft lip.

OBJECTIVE: The influence of a repaired cleft lip on the stability of coordination between upper and lower lip in nonspeech and speech tasks was investigated. DESIGN: First, we looked at the effects of a secondary cleft lip repair in three individuals. Second, we compared subjects with a history of repaired unilateral cleft lip and subjects with no history of cleft lip (controls). Lip coordination was measured using continuous estimates of relative phase. PARTICIPANTS: Subjects were nine children and adolescents with a primary unilateral cleft lip and palate repair and 4 participants without cleft matched for age across different age categories. RESULTS: In general, the averaged relative phase angle (RPA) angle values were smaller than 180 degrees, indicating an upper lip lead for lip closure. Controls showed a tendency toward a more symmetric type of coordination (close to 180 degrees), compared with subjects with a repaired unilateral cleft lip. The controls also showed less variation in coordination between the lips. For the more complex speech tasks, a general increase in variability of the RPA values for all subjects was observed, most likely suggesting a more flexible type of coordination. Regarding the effect of a secondary cleft lip repair, only one of the three patients showed a clearly less symmetric and less stable type of coordination, compared with preoperation results. CONCLUSIONS: There appear to be differences in lip coordination between speakers without and speakers with a repaired unilateral cleft lip. Furthermore, it seems that the stability of lip coordination tends to increase with age.

Adolescent↗
PubMed2000

Left or right hand dominance in children with cleft lip and palate.

The relationship between unilateral cleft lip, bilateral cleft lip, palatal clefting and left-right hand dominance was studied in 337 patients with cleft lip and/or palate aged between 3 and 14 years. There was no statistically significant difference in the laterality of handedness between different types of cleft nor between unilateral left and right sided cleft lip with or without cleft palate.

Adolescent↗
PubMed2003

[Social orientation of parents of children with cleft lip and palate].

BACKGROUND: Cleft lip and palate are the most common malformation in the orofacial region. The type and dimension of the cleft determine the functional limitations of respiration, swallowing, speech, articulation and hearing. In addition, cosmetic and communicative restrictions influence the cognitive, social and educational progress and the wellbeing of the children affected. Their parents face a difficult and lasting task: They have to cope with their child's handicap and the current standardised treatment procedures which start in early infancy. To guarantee optimum therapeutic success parents must be included as co-therapists. Therefore more information about parents' concerns and coping strategies are required. METHOD: To assess the strain put on parents of children with cleft lip and palate as well as the parents' coping strategies, a standardised questionnaire for the German-speaking parents was used during consultation in the out-patient clinic. RESULTS. In comparison with parents of children with other handicaps, the parents of children with cleft lip and palate feel less stressed out and adopt strategies of coping such as intensification of partnership, use of social support, as well as self-respect and fulfillment. Working mothers are less preoccupied and less at risk of being focussed on the handicapped child only. In comparison, the parents of children with Orofacial clefts focus less on the handicapped child in general than those parents whose children suffer from additional behavioural disorders. DISCUSSION: Though several functional, behavioural and psychological disorders may occur in children with cleft lip and palate their parents feel comparatively little stress. They do use a variety of coping strategies and tend to adopt a rather positive approach. Certainly, additional disorders of the child lead to more parental stress and likewise requiring more attention to the child which may even accentuate existing behavioural disorders. CONCLUSION: Parents of children with cleft lip and palate experience less stress in comparison with parents of children with other handicaps. Therapeutic efforts and regular check of the child's progress might support parents' coping strategies. Therapists should also ask for additional disorders such as behavioural disorders and initiate adequate support.

Adaptation, Psychological↗
PubMed2006

The multidisciplinary evaluation and management of cleft lip and palate.

Cleft lip with or without a cleft palate (CLP) and cleft palate alone (CPA) are common birth defects, with a combined birth prevalence of about 1 to 2/1,000. Affected children have a number of medical issues and potential complications, and therefore require a wide variety of healthcare specialists beyond plastic surgeons and dental specialists. For this reason, the best environment in which to deliver this care is a multidisciplinary cleft clinic (MCC) that features a team of healthcare providers, including audiology, pediatric otolaryngology, speech pathology, occupational/feeding therapy, and genetics. In this setting, the many medical issues that these children face are comprehensively addressed in the most convenient manner, as all the specialists can be seen in a single busy day. Furthermore, the referring primary care provider (PCP) will receive a concise letter that documents the team evaluation, including future management plans and recommendations for therapy. Unfortunately, few papers are available in the literature that review the workings of these clinics. In this paper we will provide such an overview, discussing the management issues for children with CLP/CPA, and how these are addressed by members of the MCC.

Child↗
PubMed2005

Double unilimb Z-plastic repair of microform cleft lip.

BACKGROUND: Microform unilateral cleft lip is characterized by 1) notched mucosal margin; 2) thin medial vermilion; 3) elevated medial peak of Cupid's bow; 4) furrowed philtral column; 5) hypoplastic orbicularis oris; and 6) minor nasal deformity. METHODS: The author's registry of unilateral incomplete cleft lip was culled for patients with microform cleft lip. Operative correction included: double-limb Z-plasty at the vermilion-cutaneous and vermilion-mucosal junctions; eversion of orbicularis oris; augmentation of philtral ridge with a dermal graft; medial positioning of the alar base; and elevation of the lower lateral cartilage. RESULTS: Microform phenotype was found in 33 of 360 infants (9.2 percent) with unilateral incomplete cleft lip. Male-to-female and left-to-right ratio were both 2:1. Median age at presentation was 11 months (range, 2 weeks to 9 years). Twenty-three patients had a double unilimb Z-plastic repair (including dermal graft and nasal correction). No revisions have been necessary at median follow-up of 5 years, however, 13 percent of children lacked prominence of the upper philtral column and one-third of children exhibited minor nostril asymmetry. CONCLUSIONS: Double unilimb Z-plasty corrects the vertical asymmetry in a microform cleft lip while limiting the scar to the lower one-half of the lip. The philtral ridge is formed by repair of the muscular diastasis and onlay of a dermal graft. Components of this technique are applicable to secondary cleft deformities, such as elevated peak of the Cupid's bow and inadequate philtral ridge.

Adolescent↗