Cleft Cases Research Articles

Congenital anomalies associated with syndromic and non-syndromic cleft lip and palate

ObjectiveTo evaluate our institution’s experience with cleft lip and palate patients and the associated syndromes and congenital anomalies. DesignRetrospective cross-sectional hospital-based study. SettingKing Abdul-Aziz Medical City, a major tertiary care center in Riyadh, Saudi Arabia. Patients, participantsThe study included all orofacial cleft (OC) cases treated at our institution between January 2008 and December 2014. Main outcome measuresAll subtypes of OC classifications with gender distribution, frequency of associated congenital anomalies, syndromes, and the sequelae of OC including otitis media and aspiration pneumonia. ResultsThe study included 196 patients. All OC cases were typical. Median (interquartile range) age was 9 (3–24) months, and 109/196 (56%) were male. Syndromic OC accounted for 38/196 (19%). The most common OC subtype was cleft palate (CP) in 78/196 (40%), followed by cleft-lip and palate in 67/196 (34%), and cleft-lip in 51/196 (26%). Congenital anomalies were diagnosed in 41/196 (21%) patients with congenital heart anomaly 24/41(58.5%), which was the commonest. Robin sequence was the most commonly associated clinical entity, seen in 25/196 (13%). Other syndromes identified included popliteal pterygium, Stickler, Apert, Dandy-Walker, Blepharo-cheilo-dontic, and Turner syndromes. OC subtypes differed significantly by congenital anomalies (χ2, p < 0.0001) and syndromes (χ2 p < 0.0001). Otitis media was most common in the CP subtype, seen in 55/196 (54%). ConclusionsPatients with OC are at increased risk of congenital malformations and syndromes. Routine screening for congenital heart anomalies should be considered and genetic counseling might be warranted in familial cases.

Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.

The majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide variants and insertion/deletions which cause or increase the risk of NSCLP. However, to our knowledge, there are no published studies using WES in NSCLP to investigate copy number changes (CNCs), which are a major component of human genetic variation. Our study aimed to identify CNCs associated with NSCLP in a Honduran population using WES. WES was performed on two to four members of 27 multiplex Honduran families. CNCs were identified using two algorithms, CoNIFER and XHMM. Priority was given to CNCs that were identified in more than one patient and had variant frequencies of less than 5% in reference data sets. WES completion was defined as >90% of the WES target at >8 × coverage and >80% of the WES target at >20 × coverage. Twenty-four CNCs that met our inclusion criteria were identified by both CoNIFER and XHMM. These CNCs were confirmed using quantitative PCR. Pedigree analysis produced three CNCs corresponding to ADH7, AHR, and CRYZ segregating with NSCLP. Two of the three CNCs implicate genes, AHR and ADH7, whose known biological functions could plausibly play a role in NSCLP. WES can be used to detect candidate CNCs that may be involved in the pathophysiology of NSCLP. Birth Defects Research 109:1257-1267, 2017. © 2017 Wiley Periodicals, Inc.

Ear Infection in Isolated Cleft Lip: Etiological Implications.

Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n = 94) compared with controls (n = 183). A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression. The reported occurrence of chronic ear infection was significantly greater in cleft lip cases (31%) compared with unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than 3 (odds ratio = 3.698; 95% confidence interval = 1.91 to 7.14). Within cleft lip cases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting.

Rare craniofacial cleft in a dark-skinned African population.

Background:Craniofacial clefts are congenital anomalies which pose a management challenge to cleft surgeons, especially in developing countries. The aim of this study is to share our experience regarding the management of these atypical facial clefts.Patients and Methods:This prospective study was carried out from May 2009 to May 2014 at Federal Medical Centre, Nguru, Nigeria. Diagnosis was based on clinical examination and Tessier classification was used to describe these clefts.Results:A total of seven patients with rare facial clefts were seen. There were four cases of midline clefts, two cases of bilateral clefts, and one case of multiple facial clefts. All cases were surgically treated, except one case of premaxillary agenesis type holoprosencephaly.Conclusion:To achieve an optimal management of patients with rare facial cleft, a well-equipped craniofacial center must be established which is still lacking in low-resource centers

Median cleft lip: A case series from a rural cleft center

Median cleft lip is a midline craniofacial cleft through upper lip. The incidence of craniofacial clefts is about 1:1,000,000 of live births. It indicates the rarity of this anomaly. Hence, this series is being presented. From January 2010 to December 2017, eight cases of the median cleft of upper lip attended the cleft clinic based in rural India. All eight patients had partial midline cleft lip. One patient had abnormal soft tissue mass and one patient had hypertelorism with nasal deformity. All of them underwent surgical repair of median cleft lip using inverted-U incision along with repair of orbicularis oris muscle in the midline. The postoperative symmetry was achieved in 100% of patients with good reconstruction of the philtrum. The associated deformities were left to be managed in second stage. A series of eight cases of partial midline cleft lip has been presented with good surgical outcome.

Morphological classification and velopharyngeal function analysis of submucous cleft palate patients

To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. Among the included cases, 96 (34.78%) were presented as velopharyngeal competence (VPC), 151 (54.71%) as velopharyngeal insufficiency (VPI), and 29 (10.51%) as marginal VPI (MVPI). Eighty cases (28.99%) also demonstrated cleft lip deformity, and 196 cases (71.01%) were merely submucous cleft palate. Compared with patients with submucous cleft palate only, those with cleft lips exhibited higher rates of complete velopharyngeal closure. The pathological spectrum of submucous cleft palate varied significantly. Only 103 (37.32%) cases met all the three diagnostic criteria proposed by Calnan. Given that the velopharyngeal closure rate varies among the subgroups, the factors analyzed in this study should be considered in the personalized manage-ment of submucous cleft palate.

Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.

BackgroundNonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromic orofacial cleft and up to 18 genetic risk loci (ABCA4, BMP4, CRISPLD2, GSTT1, FGF8, FGFR2, FOXE1, IRF6, MAFB, MSX1, MTHFR, MYH9, PDGFC, PVRL1, SUMO1, TGFA, TGFB3, and VAX1), each of which confers a different relative risk in different populations. We evaluate the nonsynonymous variants in these 18 genetic risk loci in nonsyndromic orofacial clefts and normal controls to clarify the specific variants in Taiwanese population.MethodsWe evaluated these 18 genetic risk loci in 103 cases of nonsyndromic orofacial clefts and 100 normal controls using a next-generation sequencing (NGS) customized panel and manipulated a whole-exon targeted-sequencing study based on the NGS system of an Ion Torrent Personal Genome Machine (IT-PGM). IT-PGM data processing, including alignment with the human genome build 19 reference genome (hg19), base calling, trimming of barcoded adapter sequences, and filtering of poor signal reads, was performed using the IT platform-specific pipeline software Torrent Suite, version 4.2, with the plug-in “variant caller” program. Further advanced annotation was facilitated by uploading the exported VCF file from Variant Caller to the commercial software package Ion Reporter; the free online annotation software Vanno and Mutation Taster. Benign or tolerated amino acid changes were excluded after analysis using sorting intolerant from tolerant and polymorphism phenotyping. Sanger sequencing was used to validate the significant variants identified by NGS. Furthermore, each variant was confirmed in asymptomatic controls using the Sequenom MassARRAY (San Diego, CA, USA).ResultsWe identified totally 22 types of nonsynonymous variants specific in nonsyndromic orofacial clefts, including 19 single nucleotide variants, 2 deletions, and 1 duplication in 10 studied genes(ABCA4, MYH9, MTHFR, CRISPLD2, FGF8, PVRL1, FOXE1, VAX1, FGFR2, and IRF6). Nonsynonymous variants in MYH9 and ABCA4, which were detected in 6 and 5 individuals, respectively, were identified to be the most frequent risk loci in nonsyndromic orofacial clefts in the Taiwanese population.ConclusionsNonsynonymous variants in MYH9 and ABCA4 were identified to be the most frequent risk loci in nonsyndromic orofacial clefts in the Taiwanese population. These findings in our study have provided additional information regarding specific variants associated with nonsyndromic orofacial clefts in different population and demonstrate the power of our customized NGS panel, which is clinically useful for the simultaneous detection of multiple genes associated with nonsyndromic orofacial clefts.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0322-2) contains supplementary material, which is available to authorized users.

Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

BackgroundGrainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. In addition, a missense variant (rs41268753) in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6), GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations.ObjectiveThe aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting.MethodsBecause the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs) spanning GRHL3 with minor allele frequencies (MAFs) > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5′-exonuclease allelic discrimination assay.ResultsSNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC.ConclusionsThe variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population, further studies with a larger sample size, additional SNPs, and a more diverse ethnic cohort are still warranted.

Cleft Lip Case in a Middle Bronze Age Young Man from Altai, Russia

Oral cleft (OC) is a common congenital anomaly in humans, which occurs in approximately one per 700 live births. However, cleft skulls are found relatively seldom in archaeological specimens, especially for the bc period. Mortality of infants with OC was apparently high because of breastfeeding difficulties and culturally sanctioned rejection of them in the past. This paper presents one of the most ancient cases of OC in Eurasia. The finding comes from the Middle Bronze Age pastoralists' cemetery in Altai, Russia. The skeletal remains have been radiocarbon dated to 1883–1665 cal bc. Cranial and dental measurements, computed tomography and radiography have been used to examine this malformation. The facial sculpting reconstruction has been performed to visualise the ante mortem appearance of the cleft face. Besides, δ13C and δ15N isotope analysis was used for a comparative study of the diet of the cleft individual. It has been established that a young man from Altai was affected by complete bilateral cleft lip and alveolus, which is a very rare form of typical OC. This defect is associated with dental anomalies such as hypodontia, microdontia, and ectopia as well as with dysmorphology of the facial complex outside the cleft area, including mild hypertelorism, hypoplasia of nasal bones and antheroposterior maxillary deficiency. Furthermore, aplasia of the frontal sinuses and the sacral spina bifida occulta have been observed. These findings are consistent with clinical data indicating strong correlation between development of a major defect and multiple minor anomalies. The results of the study also suggest that there was tolerant attitude towards the facial deformities among the ancient Altai pastoralists. Copyright © 2016 John Wiley & Sons, Ltd.

Epidemiological Study of Orofacial Clefts among Population of Eastern Slovakia during the Period 1996-2013.

Over the past 18 years, according to data from the Clinic of Plastic and Reconstructive Surgery, L. Pasteur University Hospital, there have been 493 cases of orofacial clefts (OC) reported in the area of Eastern Slovakia. The aim of this study was to map the occurrence of orofacial clefts reported in the area of Eastern Slovakia during the years 1996-2013. Also, we compared the occurrence of different types of clefts between the groups in relation to gender and ethnicity. The statistical analysis shows relationship between variables of location and gender and gender differences in the occurrence of various types of clefts. Moreover, in comparison with another study which analyzed the years 1985-2000 (1.29/10(3) live births), there was an increase in the incidence (1.42/10(3) live births) of OC in Eastern Slovakia. Our findings seem contradictive to similar studies which discuss ethnic differences in relation to OC. We recognize the relatively high occurrence of OC in Eastern Slovakia, and we link this phenomenon to several extrinsic factors, in particular socioeconomic status and embryotoxic factors.

Population-Based Study of Prevalence of Cleft Lip/Palate in Southern Thailand.

Oral cleft is a common craniofacial birth defect that leads to long-lasting adverse outcomes. In Thailand, there have been two studies of the prevalence of oral clefts using data from university hospitals during 1969 through 1978 and 1988 through 1999, which found prevalence rates of 1.23 and 1.22 per 1000 live births, respectively. The primary outcome was to assess the prevalence of oral clefts from the birth defects registry during 2009 through 2013 in three provinces in southern Thailand. The secondary outcomes were to correlate the risk of oral cleft and maternal age. Population-based study. Four hundred sixty-seven hospitals in three provinces in southern Thailand. Oral cleft cases and maternal data-including live births, stillbirths, and termination of pregnancy following a prenatal diagnosis-were collected from the birth defects registry. Of the total 186,393 births, there were 269 oral cleft cases, giving an average prevalence of 1.44 per 1000 births (95% CI, 1.22-1.63). The most common cleft type was cleft lip and palate (45.0%), followed by cleft palate (29.0%), with 15.6% syndromic cleft. The mean maternal age was 28.0 ± 6.4 years. There were no differences in prevalence of oral clefts among the different maternal age groups. However, advanced maternal age 35+ years was associated with syndromic cleft children. The prevalence of oral clefts was 1.44 per 1000 live births, with 15% of cases having an associated congenital anomaly or a recognized syndrome. Increased maternal age was associated with a higher prevalence of syndromic cleft.

Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study.

Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 1999-2009; and the National Birth Defects Prevention Study (United States), 1999-2007) to obtain 4,508 cleft cases and 9,626 controls. We categorized first-trimester passive and active smoke exposure. Multivariable logistic models adjusted for possible confounders (maternal alcohol consumption, use of folic acid supplements, age, body size, education, and employment, plus study fixed effects). Children whose mothers actively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.11, 1.46). Children of passively exposed nonsmoking mothers also had an increased risk (OR = 1.14, 95% CI: 1.02, 1.27). Cleft risk was further elevated among babies of smoking mothers who were exposed to passive smoke (OR = 1.51, 95% CI: 1.35, 1.70). Using a large pooled data set, we found a modest association between first-trimester passive smoking and oral clefts that was consistent across populations, diverse study designs, and cleft subtypes. While this association may reflect subtle confounding or bias, we cannot rule out the possibility that passive smoke exposure during pregnancy is teratogenic.

Practical Repair Method for Unilateral Cleft Lips: Straight-Line Advanced Release Technique.

Straight-line closure repair of unilateral cleft lips was first introduced in the 1840s, and since then, many different techniques have been attempted for cleft repair. However, these methods have several disadvantages and are difficult to adopt. In this study, we describe our novel technique, known as Straight-Line Advanced Release Technique (StART), and its application in treating several cases of unilateral cleft lip. The preoperative design of the surgical method is drawn on the skin, the vermilion, and the oral mucosa. A total of 13 points are marked (points 0-12). The A flap, B flap, triangular flap, M (medial mucosal) flap, and L (lateral mucosal) flap are designed. After completion of the preoperative marking, the wide dissection is performed to separate the orbicularis oris muscle completely from the abnormally inserted bony structure and the enveloped skin-mucosal flap. The freed orbicularis oris muscle is then reconstructed with full width. After all planes of the lip wound are closed, a straight vertical skin suture line is achieved without any unnecessary transverse scar. Unilateral cleft lip repair using StART was conducted in 145 patients between 1993 and 2012. Cases of microform cleft lip were excluded. A total of 21 patients (14%) required a secondary operation on the lip after the first unilateral cheiloplasty. In all patients, satisfactory surgical outcomes were obtained with an indistinct straight-lined scar and a well-aligned lip contour. To acquire a natural and balanced shape in unilateral cleft lip repair, we recommend the novel StART.

Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation.

BackgroundAlthough conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method.Patients and MethodsThis prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment.Results83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation.ConclusionBased on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning.

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

We sought to investigate the utility of chromosomal microarray analysis (CMA) for prenatal diagnosis of oral clefts, as compared with traditional chromosome analysis, for improved prenatal genetic counseling and discovery of a potential correlation between genotype and oral cleft. This retrospective analysis encompassed 270 prenatal oral cleft cases with documented detailed ultrasound findings and CMA results from four referral centers. Detection rates for pathogenic copy-number variants (CNVs) were calculated and compared with cases for which chromosome analysis was also performed. The overall detection rate was 14.8% (40/270) for pathogenic CNVs by CMA, 7.2% (9/125) for the nonsyndromic cases, and 21.4% (31/145) for the syndromic cases. Of the nonsyndromic cases with ultrasound soft markers, 20% (5/25) were identified with pathogenic CNVs. CMA showed an improved detection rate of 15.3% (29/190) compared with 10.5% (20/190) for chromosome analysis. This study not only highlights the improved detection of chromosomal defects by CMA in prenatal oral clefts but also deepens our understanding of oral clefts. The results suggest that CMA is highly recommended in prenatal invasive genetic testing not only for syndromic oral cleft cases but also for nonsyndromic cases with soft markers. Candidate genes including CRKL, AKAP8, SYDE1, BRD4 are worthy of further investigation regarding their role in human palatogenesis.Genet Med 18 10, 1052-1055.

A rare combination of Tessier 2 cleft with Goldenhar syndrome

The incidence of rare craniofacial clefts ranges from 1.43 to 4.85/100,000 live births. Most craniofacial centers report an incidence of 9.4-34 cases of rare clefts for every 1000 clefts. Among these Tessier clefts, the number 2 cleft is the rarest. We report one such case of complete number 2 nasal cleft in a 3-year-old boy, with features of Goldenhar syndrome, such as preauricular tags, epibulbar dermoid, and coloboma of middle one-third of the upper eyelid. This combination is extremely rare and has only been reported once before in literature. Reconstruction of the nasal cleft was carried out using a modification of Denonvilliers Z-plasty along with a composite graft from the right helix and rotation of dorsal nasal skin. Rare facial cleft combinations reinforce the embryological basis that they are likely to result from the disruption in migration of neural crest cells from rhombomeres to branchial arches by genetic manipulation by teratogens, rather than other simplistic theories.

Regional anesthesia for maxillofacial surgery in developing countries.

Regional anesthesia in the maxillofacial region is safer and more efficient than general anesthesia when its indications are carefully considered. In addition, the majority of medical institutions in developing countries are not well equipped for proper anesthesia and elective surgery. In this review, we describe regional anesthesia and cutaneous nerve divisions in the maxillofacial region. In addition, we summarize detailed regional anesthetic techniques adapted for representative cleft lip cases in developing countries.

Adult Cleft Lip Repair under Local Anaesthesia: The Ghana Experience

Background: Unlike developed countries where adult primary cleft lip and palate cases are barely nonexistent, developing countries still have a backlog of adults with unrepaired cleft lip and palate. Method: A retrospective review of adult/adolescent cleft lip repair under local anesthesia was performed between 2012 and 2015. Results: Fifty six (56) adolescent and adults were seen comprising 35 females and 21 males. Forty two patients presented with unrepaired unilateral cleft lip of which only 6 were complete; 4 were unrepaired bilateral cleft lip and 10 were revisions. The lowest age was 13 years (two patients) and the highest age was 66 years (one patient). The mean weight was 54 kg. The mean anaesthetic time including waiting time was 12.94 minutes and mean operation time was 56.52 minutes. Majority of the patients were discharged same day except for five who needed to stay overnight because of distance from their home. There were no reported early postoperative complications and wound healing was uneventful for all the patients. Conclusion: Cleft lip repair in adults under local anesthesia is safe, effective and less expensive. A modification in technique with minimal dissection and efficiency is essential in such cases.

Effects of rapid maxillary expansion in cleft patients resulting from the use of two different expanders.

ABSTRACTObjective:The aim of this study was to evaluate the skeletal and dental effects of rapid maxillary expansion (RME) in cleft patients using two types of expanders. Methods:Twenty unilateral cleft lip and palate patients were randomly divided into two groups, according to the type of expander used: (I) modified Hyrax and (II) inverted Mini-Hyrax. A pretreatment cone-beam computed tomographic image (T0) was taken as part of the initial orthodontic records and three months after RME, for bone graft planning (T1). Results:In general, there was no significant difference among groups (p > 0.05). Both showed a significant transverse maxillary expansion (p < 0.05) and no significant forward and/or downward movement of the maxilla (p > 0.05). There was greater dental crown than apical expansion. Maxillary posterior expansion tended to be larger than anterior opening (p < 0.05). Cleft and non-cleft sides were symmetrically expanded and there was no difference in dental tipping between both sides (p > 0.05). Conclusions:The appliances tested are effective in the transverse expansion of the maxilla. However, these appliances should be better indicated to cleft cases also presenting posterior transverse discrepancy, since there was greater expansion in the posterior maxillary region than in the anterior one.

The clinical application of rhBMP-7 for the reconstruction of alveolar cleft

In this study, radiographic assessment was performed to find out the effectiveness of bone regeneration following the application of recombinant human bone morphogenetic protein 7 (rhBMP-7) for the reconstruction of alveolar cleft defects in 11 cases: nine unilateral and two bilateral alveolar clefs. Reconstruction of the alveolar cleft was performed by using 3.5 mg of rhBMP-7 (Osigraft OP1) on a type I collagen carrier. Radiographs were taken 6 months post operation using a Gendex Intraoral Unit with Agfa Dentus M2 Comfort occlusal film. The amount of bony infill was graded on a Kindelan four-point scale. The patients were followed up for an average of 6.6 years. Based on the radiographic analysis, eight out of the nine unilateral alveolar cleft cases received a score of grade I and one patient had a grade II score, using the Kindelan scale. In the two bilateral alveolar clefts, only one side had bone formation. The radiographic appearance showed a normal trabecular pattern similar to the adjacent bone. Thus, rhBMP-7 was radiographically and clinically successful in regenerating the bone at the alveolar cleft which resulted in shortening of the operation time, absence of donor-site morbidity and a shorter hospital stay. The promising results of this preliminary study should encourage a phase II trial to compare bone grafts with BMP for the reconstruction of alveolar defects.