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[Echographic prenatal diagnosis of cleft lip and palate: orthodontic implications].

The study of two cases of ultrasound prenatal diagnosis of cleft lip and palate and cleft lip, led the Authors to suggest the usefulness of first istance precocius correttive surgery in the immediate postnatal period. This correttive surgery not only allows the infant to be fed by natural vias, but it also facilitates the coordinated programming of successive final correttive surgeries by the plastic, the maxillofacial surgeons and the orthodontist.

Adult↗
PubMed2004

Nonsyndromic cleft lip and palate: four chromosomal regions of interest.

Nonsyndromic cleft lip with or without cleft palate (NSCLP), a common birth defect affecting 1/700 live births and 4,000 newborns/year in the United States, is associated with short and long-term morbidity. As such, it has significant impact on the health care system. NSCLP is a complex disorder that results from the interaction of genetic and environmental factors that are slowly being defined. Genomic scans have suggested a number of regions that may contain NSCLP loci. In this study, we have evaluated regions identified by a previously published genomic scan of affected sib-pairs and have found evidence of association in sixty-five multiplex families for eight chromosomal regions. Four of these regions, 2q37, 11p12-14, 12q13, and 16p13, have also been identified in second genomic scan of multiplex families from China. One region, defined by D11S1392, gave evidence suggesting the presence of an NSCLP locus in all three studies. Altogether, these results suggest chromosomal regions that should be targeted in order to identify NSCLP loci.

Chromosome Mapping↗
PubMed2004

Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.

Approximately 4,000 babies with nonsyndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14, 12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation.

Chromosome Mapping↗
PubMed2006

Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China.

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common craniofacial malformations among newborn infants. It has been demonstrated that periconceptional folic acid supplementation may reduce the occurrence of offspring with clefts, particularly in the North China; however, the mechanism remains unknown. Our study of a thermolabile polymorphism (C677T) of methylenetetrahydrofolate reductase (MTHFR) gene in 170 Chinese case-parent triads revealed a moderate association between this MTHFR polymorphism and nsCL/P in a population from North China, but not in a population from South China. Moreover, the study revealed that the heterozygous parents in the North were about twice as likely to transmit the high-risk T allele to affected cases, as that observed in the South (OR = 2.24, 95% CI: 1.08-4.65). Thus, the MTHFR polymorphism is a significant risk factor for nsCL/P in this Northern Chinese population. Our study suggested possible genetic heterogeneity in the development of nsCL/P among Northern and Southern populations in China.

Adult↗
PubMed1992

No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate.

Eight families have been identified with cleft lip, with or without cleft palate (CL/P), inherited in an apparently autosomal dominant manner. Transforming growth factor-alpha (TGFA) has been tested as a candidate gene for clefting in these families. Negative lod scores were generated in an autosomal dominant model with 80% penetrance (Z = -3.152 at theta = 0.05 and Z = -2.49 at theta = 0.05 with only affected subjects scored). After testing with a reduced penetrance of 28%, less negative lod scores were generated (Z = -0.157 at theta = 0.00), but there was still no evidence of linkage. An autosomal recessive model with a penetrance of 35% was also tested. Regardless of the model used there was little evidence of linkage between TGFA and the CL/P phenotype, which is in contrast to the previously published findings of an association between TGFA and CL/P in unrelated subjects.

Cleft Lip↗
PubMed1995

Nasal symmetry after primary cleft lip repair: comparison between Delaire cheilorhinoplasty and modified rotation-advancement.

PURPOSE: Periosteal musculoaponeurotic (PMAS) reconstruction is a key objective in primary repair of the cleft lip. The reconstructed muscles provide a sound framework and stimulus for development of the nasolabial region. In this study two primary cleft lip repair techniques were retrospectively studied to determine if one [Delaire (Del)] which involves PMAS repair around the cleft results in more nasolabial symmetry than a technique that does not fully addressed the musculature [modified Rotation-Advancement, (mR-A)]. PATIENTS AND METHODS: Four-and 5-year-old children with complete unilateral cleft lip and palate were recalled for study (n = 33 children; Del group, 16; mR-A group, 17). Clinical and photographic records were obtained and anthropometric analyses determined for comparison between groups. RESULTS: In the mR-A group, noses had more asymmetrical tips, were shorter, projected less, and tended to be flatter or wider. Nasal indices tended to support these findings. Nasal height was similar for the mR-A and Del groups. When comparing cleft versus noncleft sides, alar width and length and nostril length were significantly different for both cleft groups. CONCLUSIONS: It appears from this study that reconstruction of the PMAS of the nasolabial region during primary cleft lip repair may positively influence growth and development of the nose in unilateral cleft lip and palate patients.

Child, Preschool↗
PubMed1984

A case of Ehlers-Danlos syndrome associated with cleft lip and palate.

A case of the Ehlers-Danlos syndrome associated with cleft lip and palate is presented. This is the first reported case with cleft lip and palate. The cleft palate in our case was successfully repaired by palatoplasty (push-back operation). The aetiology, clinical features and surgical problems of this syndrome are discussed.

Child↗
PubMed1993

A multicentre comparison of treatment regimens for unilateral cleft lip and palate using a multiple regression model.

The European Cleft Lip and Palate Research Group consists of specialists in orthodontics from six centres for the treatment of cleft palate in northern Europe. The purpose of this part of the multicentre study was to investigate whether differences in outcomes could be explained by specific treatment regimens. Three regimens that were assumed to influence the outcome of treatment were selected: Presurgical orthopaedics, closure of the palate, and primary bone grafting. The sample comprised 151 children with complete unilateral cleft lip and palate from the six centres. The result of multiple regression analysis showed that within that sample it was not possible to reach definite conclusions as to which factors exerted the most favourable influence on facial growth, but primary bone grafting was associated with reduced maxillary inclination and presurgical orthopedics with increased mandibular inclination.

Bone Transplantation↗
PubMed1998

Otoacoustic emissions in screening cleft lip and/or palate children for hearing loss--a feasibility study.

Patients with cleft lip and/or palate abnormalities are likely to suffer permanent conductive (PCHL) or sensorineural hearing loss (SNHL) due in part to the association with syndromes known to include PCHL or SNHL. The presence of otitis media, a nearly universal complication in these patients, makes identifying the hearing impaired in this population a challenge, since the detection of permanent hearing loss is made more difficult. This problem might be overcome by using click-evoked otoacoustic emissions (CEOAE's) shortly after birth. Twenty-one out of 28 newborns presented to the regional cleft palate team were eligible for CEOAE screening shortly after birth. Among these 21 infants, five had anomalies other than cleft lip and/or palate associated with an increased risk for hearing impairment. At the first CEOAE screening (ILO88 Emission Analyser, mean age 3 weeks, range 1-11 weeks) clear CEOAE's were present in all of the 18 ears of nine infants with isolated lip and/or jaw clefts. In 24 ears of 12 infants with palatal clefts, CEOAE's were present in only six ears (three infants), not demonstrable due to noisy registration in another six ears and absent in 12 ears despite a quiet registration. During follow-up of those who failed the first screening (18 ears, nine infants), normal hearing was found in 14 ears (seven infants) and sensorineural hearing loss was documented in four ears (two infants). CEOAE screening in infants with isolated lip and/or jaw clefts seems feasible and effective. In infants with palatal clefts an auditory brain stem screening might be more appropriate.

Acoustic Stimulation↗
PubMed1999

[Integrated treatment of cleft lip and palate. Organization of a treatment team].

OBJECTIVE: Collect the team experience in the treatment of children with cleft lip and palate, indicating the evolution of the team composition, advantages and improvement aspects, trying to transmit the need of team treatment. METHOD: The Bilbao cleft palate team was created in 1983, since then a cleft palate clinic, a parents group and a unit of velopharyngeal function has been developed. At present the team is composed by: pediatric reconstructor surgeon, speech therapist, orthodontist, dentist, pediatrician, ENT, maxillofacial surgeon, dismorphologyst, geneticist, nursing. RESULTS: One of the achievements has been the data unification, obtaining speech cephalometrics, photographic dental casts and video images with prospective view. At this time 403 cleft lip and palate children have been intervened, being essential the transdisciplinar team approach between surgeon, speech therapist and orthodontist. The importance of the team coordinator is pointed. The results of an audit of the two stage cleft palate closure in complete unilateral cleft lip and palate have obligated us to vary our surgical policy. The unresolved aspects are the lack of multidisciplinary team recognition at official level and the non existence of orthodontist in staff, without cost coverage of this treatment by public health system. CONCLUSIONS: In our experience the team treatment of cleft lip and palate has resulted in improvement of the clinic results, treatment protocols and training.

Adolescent↗
PubMed1991

Feeding the newborn with cleft lip and/or palate: the enlargement, stimulate, swallow, rest (ESSR) method.

The failure of newborns with cleft lip and/or cleft palate to properly gain weight remains a frustrating reality for many families regardless of the complex medical technology designed to avoid this problem. The enlargement, stimulate, swallow, suck (ESSR) feeding method was developed to easily and inexpensively reduce the occurrence of poor weight gain among these patients. Families and health care providers will benefit from adopting this method which encourages and provides successful feeding experiences for everyone involved with this group of patients that were once thought of as difficult to feed.

Cleft Lip↗
PubMed2006

Sutureless skin closure for cleft lip repair.

OBJECTIVE: To study the quality of scars following the use of butyl cyanoacrylate to close the skin during cleft lip repair. DESIGN: Nonrandomized prospective study. SETTING: Tertiary care hospital. PATIENTS: Patients (n = 104) with cleft lip and palate in combination of various degrees of cleft with the age group ranging from 3 months to 5 years. INTERVENTIONS: Use of butyl cyanoacrylate to close the skin during cleft lip repair after inserting dermal stitches with delayed absorbable sutures. RESULTS: None of the 104 patients required revision of the vertical scar, which was excellent in nature. No patients had complications such as wound infection, dehiscence, nasal obstruction, or eyelid adhesion. CONCLUSIONS: Quality of the scar following the closure of skin of cleft lip repair using butyl cyanoacrylate was considered excellent.

Absorbable Implants↗
PubMed2000

Initial cleft size does not correlate with outcome in unilateral cleft lip and palate.

Clinical outcomes in children born with a cleft lip and palate (CLP) have been an area of interest for orthodontists for a number of years. Whilst tools for measurement of these outcomes are available, there is no widely accepted measure of initial cleft severity and no known quantitative indices. Therefore, the potential influence of initial severity remains unmeasured and largely ignored. The aim of this investigation was to determine the importance of initial cleft severity in determining patient outcome. The longitudinal records of 49 children born with a unilateral cleft lip and palate (UCLP), and treated in a single centre were examined. An index of initial cleft severity was developed that categorizes the cleft area as a percentage of the total palate area. The dental arch relationships of the same patients at 6 years of age were also determined. The nature of the association between these was investigated for agreement and correlation by calculation of weighted Kappa and Spearman's correlation coefficient, respectively. No evidence was found in this sample that the initial cleft area had any bearing on the quality of outcome at 6 years of age.

Adolescent↗
PubMed2001

Unilateral complete cleft lip and palate repair using lip adhesion and passive alveolar molding appliance.

To manage a unilateral complete cleft lip and palate, lip adhesion along with the positioning of a passive alveolar molding appliance was performed in infants at 3 to 6 weeks of age. The lip adhesion creates a force acting on the cleft alveolus. There-after, the greater segment of the alveolus is guided by the appliance, while the lesser segment of the alveolus is prevented from collapsing. Definite cheiloplasty was then performed at 5 to 6 months of age and palatoplasty at 12 to 14 months of age. Fifteen patients with a unilateral complete cleft lip and palate were treated using this protocol from April 1995 to October 1998. Nine were female and six were male. The mean follow-up period was 13 months. The lip adhesion failed in one patient and was performed again 1 month later. Thirteen patients developed good or fair symmetrically aligned alveolar segments plus a symmetric platform for the nose. However, two patients developed poor maxillary orthopedics because of the displacement of the appliance by the patient. The resulting lip scar was aesthetically acceptable in most patients.

Alveolar Process↗
PubMed2000

Dental health indices and caries associated microflora in children with unilateral cleft lip and palate.

OBJECTIVE: To investigate the dental health and caries related microflora of children with unilateral cleft lip and palate. STUDY GROUP: Sixty children with unilateral cleft lip and palate and matched controls. OUTCOME MEASURES: The decayed, missing, and filled teeth and surfaces in both the deciduous and permanent dentitions. The presence of developmental defects and plaque and gingivitis scores were also recorded. Plaque was collected from 25 of the children and their matched controls from three different sites, which were (1) the first approximal site distal to the cleft, (2) a contralateral anterior site, and (3) a remote site. It was cultured for Streptococcus mutans and lactobacilli. Plaque was collected from two sites in the matched controls. RESULTS: There was no significant difference in the caries, plaque, and gingivitis scores between the children with cleft palate and the controls. A greater number of enamel opacities were recorded in the control group, and there was a higher prevalence of enamel discoloration in the children with cleft lip and palate. There was no significant difference in the proportion of S. mutans or lactobacilli at the cleft site, compared with the unaffected site in the study group, although there was an anterior-posterior gradient in the proportion of S. mutans. There was no significant association between the stagnation area at the cleft site and the bacteria associated with dental caries.

Adolescent↗
PubMed2006

Cleft lip and palate in mice treated with 2,3,7,8-tetrachlorodibenzo-p-dioxin: a morphological in vivo study.

It is well-known that TCDD (2,3,7,8, tetrachloridedibenzo-p-dioxin) induces cleft palates (CPs) in pregnant C57BL mice. However, it is unclear if TCDD is a possible teratogen for cleft lip. We examined maxillofacial malformations including cleft lip in three animal strains: A/J mice, C57BL/6J mice and ICR mice. The A/J mouse develops cleft lip and palate spontaneously at a 5-10% rate. TCDD was administered in olive oil on gestation day (GD) 12.5 with gastric tubes at 10 microg/kg, 20 microg/kg, or 40 microg/kg to examine the dose-response, and on a single day from GD 8.5-14.5 to examine the timing effects of TCDD administration on lip and palate formation. Furthermore, the palatal shelf movements during GD 8.5-14.5 were observed with a stereoscopic microscope. All embryos had cleft palates when the TCDD was administered just before palatogenesis (GD11.5-GD12.5). With respect to the TCDD effects, there were large differences among the strains. In the A/J mice, the difference between a lethal dose and a dose that could induce a cleft palate was close. Cleft lips were not induced, even when the TCDD was given just before labiogenesis. Morphologically, both palatal shelves contacted perfectly along their lengths, but separated and formed cleft palates. In conclusion, TCDD is a strong inducer of cleft palates, and interferes with the fusion phase of the secondary palate, but has no effect on the lip.

Abnormalities, Drug-Induced↗
PubMed1982

Late results following different methods of cleft lip repair.

This is a review of the cleft lip repair of 232 patients. Three groups were compared, one repaired according to the Hagedorn-Le Mesurier-Steffensen technique, another by the Tennison method and a third using the Pfeifer wave-line procedure. Muscular union was best following Pfeifer's wave-line procedure. Both the Hagedorn-Le Mesurier-Steffensen and the Tennison lips were often too long, while the Pfeifer lips were more often too short. Reconstruction of Cupid's bow was somewhat more harmonious following Tennison's method. There was a trend towards fewer disturbing scars with the Pfeifer's procedure. We feel that these findings support our 1970 decision to operate all cleft lips according to the wave-line procedure.

Child↗