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PubMedDate not supplied

[Cleft lip and palate--problematic cleft speech].

The early restoration of facial and palatal morphology in patients with cleft of lip and/or palate provides the anatomical base for good speech outcome. The author gives the up todate overview of the main problems concerning cleft speech, such as velopalatal insufficiency and typical articulation errors. The article describes the modern methods for the evaluation of VPI and current trends in treatment modalities for VPI.

Articulation Disorders↗
PubMed2000

Genetics of cleft lip and palate.

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. As a result of the treatment interventions, pediatric nurses may be required to care for these children beginning in infancy through adolescence. Providing care for these patients and families can include educating patients and parents about the genetics of CL/CP, as well as meeting their immediate medical needs. A basic overview of normal lip and palate development, classification of clefts, pathophysiology of CL/CP, incidence, inheritance, genetic and environmental causes, genetic counseling, prenatal diagnosis, fetal surgery, and nursing implications is provided to educate pediatric nurses about the basics of the genetics of CL/CP.

Cleft Lip↗
PubMed2003

Three-dimensional lip morphometry in adults operated on for cleft lip and palate.

Measurements were taken from 18 patients operated on for cleft lip and palate, aged 19 to 27 years, and 162 control subjects matched for sex, age, and ethnic group. Nine soft-tissue landmarks on the lips were digitized by a three-dimensional electromagnetic instrument. From the landmarks, several linear distances (mouth width, philtrum width, vermilion height of upper and lower lip, total vermilion height, total lip height), the interlabial angle, and some areas (vermilion of upper lip, vermilion of lower lip, total vermilion) and volumes (upper lip volume, lower lip volume, total lip volume) were calculated. Patient and reference data were compared by t tests and Watson-Williams tests. In the men, significant differences (p < 0.05) were found in width of the philtrum, height and area of the vermilion part of the upper lip, and total vermilion height and area (all larger in male patients than in controls). In the women, significant differences were found in the height and area of the vermilion part of the upper lip (larger in female patients than in controls), and in the height and area of the vermilion part of the lower lip (smaller in patients than in controls). In both sexes, the interlabial angle was smaller than in the reference population. In conclusion, the upper lip of adult patients operated on for cleft lip and palate differed from that of healthy controls of the same age, sex, and ethnic group. Surgical correction of cleft lip and palate failed to provide a completely normal appearance. The analysis pointed out those parts of the lips and mouth (in particular, the vermilion part of the upper lip) that differed the most from the norm. The method may be used to indicate to the surgeon and patient where additional procedures might be performed to approximate the morphologic characteristics of a reference population.

Adult↗
PubMed2006

Prolabial lengthening by Turkish tulip method in bilateral cleft lip repair.

OBJECTIVE: In bilateral cleft lip, there is a characteristic deformity called cleft lip nose characterized by short columella and prolabium with a pressed nose. Although lots of surgical techniques were described for columella lengthening and correction of the nose deformity, no technical method was suggested for prolabium lengthening. STUDY DESIGN: In this paper we propose a simultaneous bilateral cleft lip repair and lengthening of the prolabium, and describe a new technique called "Turkish tulip" for this aim. PATIENTS AND METHOD: Eleven patients (6 males and 5 females) with bilateral cleft lip were treated using this method. Patients' ages ranged from 3 months to 17 years at the time of operation. Five patients had incomplete and six had complete bilateral cleft lips. The patients were evaluated in terms of functional and aesthetic results in postoperative period. RESULTS: : The average follow-up time was 8 months (ranged from 4 months to 15 months). There were no postoperative complications. The prolabium was lengthened adequately in all patients. No notch and whistle deformity was seen in our series. The patient or parent satisfaction was good or perfect in all cases. CONCLUSIONS: To avoid the disadvantage of the long time course required to correct the nose deformity and to lengthen the prolabium, we propose the "Turkish tulip" technique with the primary repair of bilateral cleft lips simultaneously. With this technique it is possible to lengthen the columello-prolabial complex with cleft lip repair in the same session without any intervention to any part of the nose including the columella. As a preliminary study, according to the early results, this new technique seems to have good cosmetic outcomes.

Adolescent↗
PubMed2005

Management of the cleft lip deformity.

A congenital cleft lip is a deformity that has significant physical and psychologic impact. Many surgical repairs have been proposed for reconstruction of unilateral cleft lip deformities, including straight-line repairs and various forms of geometric flap repair. This article classifies cleft deformities and describes the history and specific techniques of unilateral cleft lip repair. Understanding and application of these techniques can aid the cleft surgeon in maximizing function and appearance of a child born with a cleft lip deformity.

Cleft Lip↗
PubMed2006

Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate.

UNLABELLED: Cleft lip with or without cleft palate and cleft palate (CL/CLP/CP) is one of the most common malformations among newborns. The estimated prevalence in Latvia is 1/700. Nonsyndromic CL/CLP/CP is a complex trait determined by multiple, interacting genetic and environmental factors. MSX1 gene is one of the most important candidate-genes, which had been analyzed in relation with nonsyndromic CL/CLP/CP. The objective of our study was to examine the etiologic role of MSX1 gene mutations in the development of nonsyndromic CL/CLP/CP in Latvian population. MATERIALS AND METHODS: DNA was extracted from venous blood of 53 patients with cleft lip with or without palate. Polymerase chain reaction (PCR) was performed of selected segments of MSX1 gene. These were sequenced and analysed by comparison with reference sequence, accession Nr. AF426432 (NCBI). RESULTS: 16 DNA sequence variations were identified in 53 patient samples; 6 of them have not been previously described. Identified sequence variations localized in coding regions do not cause amino acid substitutions, therefore they are not considered as mutations with an etiological role in CL/CLP/CP development. Baltic-Taiwan joint research project "Identification of genes involved in craniofacial morphogenesis and susceptibility to orofacial clefting in a human genome scan 2004-2006".

Adenine↗
PubMed2006

CHD7 gene and non-syndromic cleft lip and palate.

Cleft lip and palate is a common birth defect that has a complex etiology resulting from an interaction of genetic and environmental factors. Few genes are known to contribute to its etiology. CHARGE syndrome is a common multiple malformation syndrome in which 20-36% of the cases have clefting. CHARGE is caused by mutations or deletions in the CHD7 gene. We analyzed the coding regions of CHD7 in nine CHARGE cases and identified five mutations, four of which were novel. We sequenced selected CHD7 exons in non-syndromic clefting cases from Iowa and Philippines populations, as well as matched controls. Variants in non-syndromic cases were found, however, the numbers were not statistically different from the controls. Association analysis of three single nucleotide polymorphisms (SNPs) using 878 case-parent triads from Iowa and Philippines population showed no significant overtransmission. Mutations in CHD7 are not common in isolated clefting cases and we found minimal evidence that CHD7 can act as a modifier for non-syndromic clefting.

Abnormalities, Multiple↗
PubMed1996

Preserving aesthetic units in cleft lip repair.

Techniques for cleft lip reconstruction continue to evolve as plastic surgeons strive to achieve the most natural lip and nasal configuration. Critical analysis of cleft lip repairs led to the development of the ipsilateral columellar Z-plasty. Since 1988, 120 infants have undergone this procedure as their primary cleft lip repair. The philtrum is designed as a symmetric aesthetic unit extending into the columella as needed. The entire tissue deficiency is then reflected in the columella. The defect is filled by an ipsilateral flap which is designed as an asymmetric Z-plasty with the resultant transverse limb at the junction of the lip and columella. The abnormally oriented muscle is extensively dissected and reconstructed as a separate layer. The nasal deformity is reconstructed by elevating and rotating the displaced alar cartilage and controlling the dead space with bolsters or nasal conformers. This method suggests a way of rearranging the medial segment tissue to achieve adequate columellar length and a symmetric philtrum, with the cutaneous scar, the mirror image of the philtral column on the non-cleft side. The lateral tissue remains lateral with less mucosal attenuation and tightening.

Child↗
PubMed1980

Management of children with cleft lip and palate.

Cleft lip or palate or both is one of the common congenital conditions in Ontario; its incidence is 1.2 to 1.6 per 1000 live births. A review of the records of 358 patients showed that 40%, particularly those with a severe defect, had other medical problems. This condition can affect the children and their families in many ways. In early life many patients undergo surgical repair and have speech, hearing and dental problems; during adolescence they may have cosmetic, orthodontic and emotional problems. Many parents are concerned about the genetic implications of the defect. This variety of problems requires management by several health care disciplines. Many Canadian health sciences centres offer multidisciplinary team management in a cleft palate clinic. The child's primary care physician, with whom the team exchanges information, plays a significant role in helping the child and the family function optimally.

Adolescent↗
PubMed2001

Repair of bilateral cleft lip, alveolus and palate Part 3: Follow-up criteria and late results.

The last part of this series outlines closure of the hard palate with various modifications depending on the remaining width of the cleft. Additionally the necessity and parameters of follow-up documentation are emphasized and detailed. For the two patients shown in Parts 1 and 2, the corresponding data are given. Accumulated facial growth curves of all the other patients treated the same way are also given. The main results are: (A) lip and nose can be reconstructed much more easily after repositioning of the premaxilla and (B) the reported anterior growth delay following use of the Latham appliance could not be confirmed during the ongoing follow-up. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

Journal Article↗
PubMed1996

Molecular basis of familial cleft lip and palate.

Cleft lip and palate (CLP) is one of the commonest congenital malformations and although the aetiology is still very unclear, a familial genetic component is considered to be an important factor in certain individuals. Molecular biology techniques are being used to identify the genes involved and this paper reviews current knowledge and the advances that have already been made. Recent evidence suggests a potential major gene on 6p, and a modifying role for transforming growth factor alpha (TGFA). Moreover retinoic acid receptor alpha (RARA) (17q), MSXI (4p), 4q and BCL3 (19q) could all be implicated in certain CLP families. In addition, the potential modifying role of various genes with the environment are considered to be important areas of research in the future. The identification of a genetic locus associated with this disease would be an important advance in CLP genetic counselling and lead to a better understanding of the genetic basis of CLP.

Animals↗