The Cleft Palate Craniofacial Journal

To examine the role of the IRF6 mutations in Polish families with Van der Woude syndrome and popliteal pterygium syndrome and to determine the effect of IRF6 single nucleotide polymorphisms (rs7552506, rs2013162, and rs2235375) on cleft lip and/or palate susceptibility.

IRF6 mutation screening was performed by direct sequencing of all coding exons of the gene and their flanking intronic regions. Cosegregation analysis was performed to establish the relation of single nucleotide polymorphisms and cleft lip and/or palate phenotypes.

We screened the IRF6 gene in eight families with clinical recognition of Van der Woude syndrome and popliteal pterygium syndrome.

In five families we identified pathogenic mutations, all affecting the DNA-binding or the protein-binding domain of IRF6. Two of the mutations were novel—a missense mutation Arg31Thr and a small deletion Trp40Glyfs∗23. In most cases we found also a haplotype of three single nucleotide polymorphisms—rs7552506, rs2013162, and rs2235375. The association of the single nucleotide polymorphisms and cleft lip and/or palate susceptibility has been previously published. The variants did not cosegregate with phenotype in examined families nor did they cosegregate with pathogenic mutations. The single nucleotide polymorphisms were deemed not causative, due to their presence in unaffected family members.

Two novel mutations (Arg31Thr and Trp40Glyfs∗23) in the IRF6 gene were identified to be causative for Van der Woude and popliteal pterygium syndromes. In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found. The hypothesis, whether the haplotype of the three single nucleotide polymorphisms was correlated with IRF6 expression level, demands further investigation.

To evaluate the evolution of facial edema in the postoperative period after alveolar graft surgeries performed with collagen membrane soaked with recombinant human bone morphogenetic protein-2 (rhBMP-2) in individuals with cleft lip and palate.

Longitudinal prospective.

Tertiary craniofacial center.

One hundred fifty individuals submitted to alveolar graft.

In the preoperative consultation and 4 days after surgery, the individuals were assessed as to age, professional performing the surgery, duration of the procedure, type of cleft, measurement of facial edema, mouth opening, and global evaluation of the postoperative period.

Statistical analysis was performed to compare the facial edema and different variables, at a significance level of .05.

The maximum facial edema occurred between 3 and 4 days postoperatively, was inversely proportional to age and mouth opening, greater for female patients compared with male patients, for incomplete unilateral cleft lip and palate compared with other types of clefts, and for surgeon 1 compared with the other surgeons at some moment postoperatively. The surgeries were longer for complete unilateral and bilateral clefts. The difference was statistically significant for these variables.

The facial edema was influenced by the rhBMP-2 used in alveolar graft, and trismus was proportional to the intensity of facial edema.

The aim of this study is to evaluate the nasopharyngeal airway volumes of patients with unilateral cleft lip and palate (UCLP) with different GOSLON scores.

The study sample consisted of 34 patients with UCLP and 20 controls with no cleft history. In the UCLP group, three experienced examiners used the GOSLON Yardstick to rate dental arch relationships, and the sample was divided into three groups as GOSLON 2 (G2) (n = 13), GOSLON 3 (G3) (n = 10), and GOSLON 4 (G4) (n = 11). Airway volumes were constructed using three-dimensional computed tomography data and divided into four compartments named the nasal airway, and superior, middle, and inferior pharyngeal airways.

No statistically significant difference was detected among G2, G3, and G4 between the constitutive airway departments of the nasopharyngeal region. However, nasal airway volumes were significantly higher in the control group when compared with the UCLP group.

Although there was no correlation among the investigated parameters, it is also a fact that airway capacities display a great variability among patients when investigated three dimensionally.

Although the severity of GOSLON scores might predetermine the extent of which the airways are affected from the cleft, a larger sample size is needed in future studies.

To assess the effect of tranexamic acid on the quality of the surgical field.

Prospective, randomized, double-blind study.

Institutional, tertiary referral hospital.

American Society of Anesthesiologists physical status class I patients, aged 8 to 60 months with Group II or III (Balakrishnan's classification) clefts scheduled for cleft palate repair.

Children were randomized into two groups. The control group received saline, and the tranexamic acid group received tranexamic acid 10 mg/kg as a bolus, 15 minutes before incision.

Grade of surgical field on a 10-point scale, surgeon satisfaction, and primary hemorrhage.

Significant improvements were noted in surgeon satisfaction and median grade of assessment of the surgical field (4 [interquartile range, 4 to 6] in the control group vs. 3 [interquartile range, 2 to 4] in the test group; P = .003) in the tranexamic acid group compared to the control group.

Preincision administration of 10 mg/kg of tranexamic acid significantly improved the surgical field during cleft palate repair.

Characterize mandibular morphology in patients with syndromic craniosynostosis and document changes in mandibular position following midfacial advancement using distraction osteogenesis (DO).

Retrospective chart review and analysis of cephalometric radiographs.

Tertiary care center.

Patients with syndromic craniosynostosis who had midfacial advancement with DO at Boston Children's Hospital between 2000 and 2012. Mandibular morphology was characterized in 26 patients (15 boys and 11 girls) with a mean age of 11 years, 9 months. Pre- and postoperative analyses were performed for 17 (10 boys and 7 girls) of the 26 patients with a mean age of 11 years, 9 months.

Mandibular morphology and mandibular position. Data were compared to standard data from the Michigan Growth Study.

Comparison of preoperative mandibular measurements to standard data showed that patients with syndromic craniosynostosis have a shorter mandibular body and length and an obtuse gonial angle. Comparison of pre- and postoperative cephalograms showed that, following midfacial advancement with DO, the maxilla moved forward and the mandible moved backward and downward.

Patients with syndromic craniosynostosis have a smaller mandible length and obtuse gonial angle. Correction of midfacial hypoplasia with DO results in inferior and posterior mandibular movement. Clinicians can use this information to counsel patients regarding anticipated changes in facial profile and the need for adjunct procedures.

To measure cross-sectional areas of the main nasal constrictions as a function of the distance into the nose in children with repaired unilateral cleft lip and palate, as compared with children without cleft, by acoustic rhinometry.

Prospective analysis.

Craniofacial anomalies hospital.

A total of 39 children with repaired unilateral cleft lip and palate and 34 healthy controls without cleft, of both genders, aged 6 to 9 years.

Nasal cross-sectional areas measured at the three main deflections of the rhinogram (CSA1, CSA2, CSA3) and distances from the nares (dCSA1, dCSA2, dCSA3) were assessed by means of an Eccovision Acoustic Rhinometer, before and after nasal decongestion. Differences were analyzed at a significance level of 5%.

At the cleft side, mean CSA1, CSA2, and CSA3 values ± standard deviation obtained before nasal decongestion were 0.17 ± 0.12, 0.29 ± 0.20, and 0.40 ± 0.28 cm², respectively, and dCSA1, dCSA2, and dCSA3 values ± standard deviation were 2.02 ± 0.40, 3.74 ± 0.51, and 5.50 ± 0.44 cm, respectively. At the noncleft side, these were 0.33 ± 0.11, 0.65 ± 0.28, and 0.90 ± 0.43 cm², respectively, and 1.69 ± 0.48, 3.67 ± 0.53, and 5.60 ± 0.70 cm, respectively. Increased cross-sectional area means were seen after nasal decongestion in the control and cleft groups. Mean cross-sectional area values at the cleft side were significantly smaller than noncleft side and control values, and the mean dCSA1 value was smaller at the noncleft side before and after decongestion.

Objective assessment of internal nasal dimensions has shown that children with unilateral cleft lip and palate have a significant impairment of nasal patency due to the reduced cross-sectional areas seen at the cleft side.

The present study was performed to identify factors that lead to a favorable outcome of postpalatoplasty velopharyngeal incompetence using the double-opposing Z-palatoplasty.

A retrospective analysis was performed on 23 consecutive nonsyndromic patients who underwent secondary surgical management of velopharyngeal incompetence using a double-opposing Z-palatoplasty technique following primary, non-Furlow palatoplasty for overt cleft palate.

All subjects were evaluated preoperatively using a perceptual speech assessment scale, nasendoscopy, and videofluoroscopy. Inclusion criteria consisted of a velopharyngeal gap of 9 mm or less on phonation. Patients were followed with perceptual speech assessment for at least 1 year following secondary surgery.

The perceptual speech assessment score for all patients decreased from 6.48 ± 2.26 (mean ± standard deviation; range, 3 to 11) to 1.90 ± 1.51 (range, 0 to 6) at 6 months or more postoperatively (P < .0001). Of the 21 patients with follow-up data 1 year or more post–op, 16 (76%) achieved velopharyngeal competence and five (24%) had borderline competence. Preoperative assessment factors associated with compromised outcome included a large velopharyngeal gap of 7 to 9 mm, poor lateral wall motion of 40% or less, and an elevated perceptual speech assessment score.

Double-opposing Z-palatoplasty is a surgical technique that can be used successfully to correct velopharyngeal incompetence in selected secondary palatoplasty patients. This technique permits correction of velopharyngeal incompetence and restoration of the velopharyngeal mechanism irrespective of prior intravelar veloplasty and without accompanying loss in the nasal airway. Preoperative assessment can better identify those patients who are less likely to achieve velopharyngeal competence following double-opposing Z-palatoplasty alone.

We hypothesize that primary repair of submucous cleft palate (SMCP) with Furlow palatoplasty will not lead to significant differences in speech outcomes for syndromic and nonsyndromic children.

Retrospective analysis of patients with primary Furlow repair of SMCP between 2004 and 2012.

Tertiary care center.

Thirty-four patients (15 boys; 44%) satisfied our inclusion criteria: multidisciplinary consensus on diagnosis of SMCP, failed trial of speech-language rehabilitation, at least 4 years old at the time of primary surgery, at least 6 months follow-up with a repeat set of postoperative speech assessments.

Primary Furlow palatoplasty for SMCP.

Primary outcomes were based on postoperative perceptual speech assessments and the need for revision surgery. Secondary outcomes included improvement in nasalance scores, postoperative complications, and change in and time to normalization of velar closing ratios.

Mean age at surgery = 7.7 years. Of the patients, 17 (50%) were syndromic and 11 (32%) had associated hearing loss. Mean follow-up = 48 months. No patients had postoperative complications, such as wound dehiscence or fistula; however, two patients (one syndromic, one nonsyndromic) required secondary procedures. Velar closing ratios for all patients increased (P < .05) and approached normal at an average of 1.3 years postoperatively.

Although the Furlow palatoplasty can correct anatomic anomalies, it cannot achieve normal perceptual resonance in syndromic patients, possibly because of inherent higher-order deficiencies that affect speech production. Further studies with greater patient numbers are necessary to achieve population statistical significance.

Cleft in the lip and/or the palate (CL/P) is considered to be a lifelong condition, yet relatively little is known about the long-term outcomes for patients. Existing literature is largely outdated and conflicted, with an almost exclusive focus on medical aspects and deficits.

To explore the psychological adjustment and possible support needs of a large number of adults born with CL/P from their own perspective.

Fifty-two individual telephone interviews eliciting qualitative data.

Qualitative analysis identified five themes. Participants reported a range of challenges in relation to discharge from the service, additional surgery as an adult, social and romantic relationships, higher education, vocational achievement, and access to psychological support. The findings imply that most adults with a cleft adjust well to these challenges and report many positive outcomes. For a minority of patients, issues attributed to the cleft may continue to cause distress in adulthood.

Adults with CL/P may require psychological support, information about the heritability of cleft, signposting and referrals from nonspecialists, support regarding further treatment, and opportunities to take part in research and activities. New issues arising in adulthood, such as entering the workplace, forming long-term relationships, and starting a family, may warrant both further investigation and additional support. Further work is needed to identify the factors that contribute to psychological distress and resilience, as well as the timing of particular points of risk and opportunity for personal growth.

Explore psychological functioning in adolescents with a cleft at age 16 from a broad perspective, including cognitive, emotional, behavioral, appearance-related, and psychosocial adjustment. High-risk groups were identified within each area of adjustment to investigate whether vulnerable adolescents were found across domains or whether risk was limited to specific areas of adjustment.

Cross-sectional data based on psychological assessments at age 16 (N = 857). The effect of gender, cleft visibility, and the presence of an additional condition were investigated on all outcome variables. Results were compared with large national samples.

Hopkins Symptom Checklist, Harter Self-Perception Scale for Adolescents, Child Experience Questionnaire, and Satisfaction With Appearance scale.

The main factor influencing psychological adjustment across domains was gender, with girls in general reporting more psychological problems, as seen in reference groups. The presence of an additional condition also negatively affected some of the measures. No support was found for cleft visibility as a risk factor except for dissatisfaction with appearance. Correlation analyses of risk groups seem to point to an association between social and emotional risk and between social risk and dissatisfaction with appearance. Associations between other domains were found to be weak.

The results point to areas of both risk and strength in adolescents born with a cleft lip and/or palate. Future research should investigate how protective factors could counteract potential risk in adolescents with a cleft.

To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate.

Retrospective, observational study.

Referral, urban, children's hospital

Dental models and records of 270 patients were analyzed.

None.

Angle occlusion classification.

The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P < .02). At time of palatoplasty, cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P =. 10).

Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

To provide quantitative information about the facial soft tissue of Italian and Northern Sudanese subjects with Down syndrome by using summary anthropometric measurements.

The three-dimensional coordinates of soft tissue facial landmarks were obtained using a computerized digitizer in 54 Italian subjects with Down syndrome (20 females and 34 males, 13 to 52 years), in 64 Northern Sudanese subjects with Down syndrome (18 females and 46 males, 5 to 34 years), and in 578 Italian and 653 Northern Sudanese reference subjects, matched for sex and age. From the landmarks, 16 facial dimensions were calculated. Data from subjects with Down syndrome were compared with those collected from control individuals by computing z scores. Two summary anthropometric measurements for quantifying craniofacial variations were obtained: the mean z score (an index of overall facial size) and its standard deviation, the craniofacial variability index (an index of facial harmony).

In subjects with Down syndrome, facial size was significantly smaller and craniofacial variability was significantly greater than in typically developed individuals; 93% of Italian and 81% of Northern Sudanese subjects with Down syndrome had one or both values outside the normal interval. Overall, Italian subjects with Down syndrome differed more from the norm than did those from Northern Sudan. In the Northern Sudanese subjects, the mean z scores and the craniofacial variability index were significantly influenced by age: Older Northern Sudanese subjects with Down syndrome had smaller mean z scores and craniofacial variability index values than younger subjects.

The two ethnic groups had different alterations in their soft tissue facial dimensions that were partially influenced by age.

The aims of this study were to analyze the prevalence of sella turcica bridging and to measure the size of the sella turcica on profile cephalograms in a homogenous group of surgically repaired unilateral cleft lip and palate (UCLP) patients.

Tertiary care center.

Retrospective cross-sectional study.

Preorthodontic lateral cephalometric radiographs of 64 UCLP individuals between the ages of 16 and 29 years along with an equal number of age- and sex-matched skeletal Class I controls.

The extent of calcification of the interclinoid ligament was quantified (completely calcified, partially calcified, no calcification) and mean values compared. Length, depth, and diameter of the sella turcica were also measured. The results were statistically analyzed using paired t test and Wilcoxon signed ranks test.

Complete sella bridging of both type A (4.6%) and type B (21.7%) was significantly higher in UCLP patients. This has not been reported previously. Partial sella bridging was also higher in cleft patients as evaluated by two methods (42.18%, 39.06%). This study demonstrated a statistically significant decrease in all dimensions of sella turcica in UCLP patients.

The UCLP patients apparently had higher predilection for sella turcica bridging. The dimensions of sella turcica were also seen to be significantly smaller than the control group. Defective proliferation and deviated pathways of neural crest cell migration as well as premature rupture of contact between neuroepithelium and oral ectoderm as postulated causes are discussed.

To determine the relationship between infant cleft size and dental arch relationship in the mixed dentition in patients with complete unilateral cleft lip and palate.

Retrospective analysis of mixed longitudinal records.

A total of 29 consecutively enrolled patients with unilateral cleft lip and palate participated in a longitudinal study that included dental casts prior to lip surgery (T1: age 1 month), prior to palate surgery (T2: age 10 months), and in mixed dentition (T3: age 9 years).

All infants were managed with lip repair (2.5 months), hard palate repair (12 months), and soft palate repair (16 months) but without any presurgical orthopedic treatment and no orthodontic intervention prior to mixed dentition records.

The outcome measures included determination of an infant cleft severity ratio, defined as the ratio of palatal cleft area to palatal surface area, at both T1 and T2, and the 9-year-old (T3) dental arch relationship as determined using the GOSLON Yardstick. The correlation between the infant cleft severity ratio at T1 and T2 and the later GOSLON Yardstick score at T3 was determined using Pearson r. The intrarater reliability of the infant cleft severity ratio was assessed with Pearson r and the interrater reliability of the GOSLON Yardstick ratings, by weighted kappa.

Reliability for the infant cleft severity ratio method was r = .92 to .95, and for GOSLON ratings κ = .81 to .91. There was no significant correlation between 1-month infant cleft severity ratio and GOSLON (r = .3) and 10-month infant cleft severity ratio and GOSLON (r = .1).

Cleft size versus the amount of palatal tissue available for repair and concern over more scarring with a greater infant cleft severity ratio were not factors in affecting the eventual dental arch relationship.