The Cleft Palate Craniofacial Journal

The goal of this study was to confirm the reported association between a noncoding SNP (rs642961) in IRF6 and nonsyndromic cleft lip and palate.

Two SNPs in IRF6 (rs2235371 and rs64296) were genotyped in Hispanic and non-Hispanic white multiplex (122) and simplex (308) nonsyndromic cleft lip and palate families. Linkage and family-based association analyses were performed on the individual SNPs as well as the 2-SNP haplotype.

Only modest evidence was found for an association with rs642961 and the 2-SNP haplotype. In contrast, strong evidence was found for the association with rs2235371; this was most evident in the non-Hispanic white simplex families.

Although it is confirmed that variation in IRF6 is associated with nonsyndromic cleft lip and palate, the results do not support the reported association with SNP rs64296. Importantly, the association varies between ethnic groups. This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate.

To assess the use of fetal magnetic resonance imaging (MRI) in obtaining a definitive prenatal diagnosis of cleft palate.

All expectant mothers with a sonographically diagnosed fetal cleft lip or a previously affected child with cleft palate were offered antenatal MRI at around 34 weeks' gestation. Images were interpreted by a consultant radiologist who was blinded to the ultrasound diagnosis. Two MRI readings were performed: one at the time of examination and one at the end of the study to elicit the radiologist's learning curve. MRI findings were correlated with the birth diagnosis.

Tertiary referral center for facial clefts—the Spires Cleft Centre, Oxford Children's Hospital, Oxford, United Kingdom.

Study participants included 49 pregnant women between 24 and 37 weeks' gestation, four with a family history of cleft posterior palate and 45 with a facial cleft on a 20-week ultrasound.

The positive predictive value of fetal MRI for involvement of the palate was 96%, and the negative predictive value was 80%. The accuracy in predicting palatal clefting of four different MRI signs is discussed. The radiologist's interpretation skills significantly improved between the two MRI readings.

Fetal MRI enables us to predict accurately the extent of a cleft palate after an ultrasound diagnosis of cleft lip. With more accurate diagnosis of the severity of the cleft, we can counsel patients more precisely and plan postnatal management correctly.

To evaluate the survival rate of dental implants placed in the cleft area.

Retrospective study.

Hospital for Rehabilitation of Craniofacial Anomalies, Brazil. Institutional Tertiary Healthcare Center.

120 patients who received dental implants in the grafted cleft area in the years 1999 to 2005.

Clinical data were evaluated from the records of 120 patients according to the following criteria: placement grafted, cleft area, and age at surgery; age at placement of dental implants; site and dimension of implants; interval between placement of implants and the last clinical follow-up; and interval between placement and removal or indication for removal of implants.

Percentage of survival rate of implants.

Mean age at placement of the bone graft was 17.6 years and 21 years at placement of implants. A total of 123 cleft areas received secondary bone graft and bone graft to install implants (regraft). The mean survival rate was 34 months since placement of the implant to the last clinical follow-up and 26 months since placement of the prosthesis. Seven dental implants were removed. The survival rate since placement to the last clinical follow-up was 94.3%.

Rehabilitation of the cleft area with dental implants is a viable and secure alternative, with good prognosis.

To compare dental aesthetics and function of orthodontic space closure versus prosthetic replacement of upper lateral incisors in patients with bilateral cleft lip and palate. The predominant mode of prosthetic replacement was resin-bonded bridges.

The retrospective study group consisted of 17 patients treated with orthodontic space closure (13 men, four women; median age, 27.1 years; interquartile range, 20.6 to 33.3 years) and 10 patients treated with prosthetic replacement (five men, five women; median age, 27.7 years; interquartile range, 20.9 to 39.7 years). Dental aesthetics were evaluated by the patients and by a professional panel. Mandibular function was evaluated by means of the mandibular function impairment questionnaire. The level of mandibular impairment was calculated using the Function Impairment Rating Scale.

With respect to dental aesthetics, no significant differences between patients treated with orthodontic space closure and prosthetic replacement were found. With respect to function, the level of mandibular impairment was significantly higher in patients treated with prosthetic replacement compared with patients treated with orthodontic space closure, as indicated by high scores on specific masticatory functions.

Orthodontic space closure and prosthetic replacement in bilateral cleft lip and palate patients produce similar results in terms of aesthetics. In terms of function, prosthetic replacement results in significantly more impairment of specific masticatory functions.

The prevalence of otitis media with effusion approaches 100% in infants with cleft palate (CP), and disease pathogenesis is believed to be caused by eustachian tube (ET) dysfunction.

Quantify the functional consequences of ET anatomy in infant CP specimens, and identify the relative importance of various tissue biomechanical properties on ET function in infants with CP.

Finite element models of ET anatomy and physiology were developed by using image analysis and three-dimensional (3D) reconstruction techniques. Models were developed using histological images of ET structures obtained from five infant CP specimens. The models were parameterized, and the effects of varying model parameters, which included tensor veli palatini and levator veli palatini force, ET cartilage, periluminal mucosal compliance, and hamular position on resistance to airflow through the tubal lumen, were determined.

Of the evaluated parameters, only applied tensor veli palatini muscle force and compliance of the periluminal mucosa and cartilage tissues were significant predictors of resistance to airflow through the ET during muscle-assisted opening.

Finite element models of ET function in the CP infant identified tensor veli palatini muscle force as a direct predictor and mucosal/cartilage compliance as an indirect predictor of ET opening during muscle-assisted lumen dilations. Hamular position and levator veli palatini force were not found to have an effect on ET function in CP infants.

To measure and compare three-dimensional lip form in participants with a repaired cleft lip and noncleft control participants.

Retrospective study. Three-dimensional facial images of each participant were obtained.

The sample consisted of two groups: a repaired cleft lip group (n = 57) and a noncleft “normal” group (n = 28).

Thirty-four variables that described the features of each participant's lip form were extracted from the image data. A t test was used for each variable to test for significant differences between the groups, and a mathematical technique was used to categorize the lip forms in both groups.

Seventeen variables showed significant between-group differences. The differences were focused on the free edges of the upper and lower lip vermilion borders, upper and lower lip protrusion, and lip symmetry. Lip forms were described by seven categories. Participants with cleft lip were represented in all categories but fell mainly into two categories at one extreme. Noncleft participants were represented in five categories but also exclusively in two categories at the other extreme from participants with a repaired cleft lip. The findings show greater variation in lip form for the participants with a cleft lip.

Three-dimensional lip form in participants with a repaired cleft lip was found to have greater variation and to be significantly different from that in noncleft participants. This method can be used to assess surgical outcomes of lip form.

To review the clinical outcomes of our cleft palate team in terms of fistula rate and to determine whether gender, syndrome, cleft type, age at repair, operating surgeon, type of cleft repair, and cleft width influence the risk of fistula occurrence. Cleft palate repair was done in one- or two-stages.

A retrospective analysis was performed of medical records of 275 patients who underwent palate repair and who were born between 1988 and 1997. All consecutive cleft (lip and) palate patients (including syndromes) were incorporated. Multivariate analysis was performed to look for predictors of the formation of fistulas.

One hundred fifty-four and 121 patients underwent two-stage and one-stage repair, respectively. The median duration of follow-up was 9 years. The overall incidence of the formation of a fistula was 21%, with a recurrence rate of 9% after fistula repair. Three independent predictors of fistulization were found: palate repair in two stages, younger age at the second stage of a two-stage repair (≤3.0 years), and greater cleft width (≥13 mm). A fistula occurred in 27% of two-stage repairs versus 14% of one-stage repairs.

This study found a relatively high incidence of fistula formation after cleft palate repair. Although the study populations were not randomized, this study suggests that a two-stage closure has a higher rate of fistula formation when compared with a one-stage closure. This study demonstrates that cleft width at the time of cleft palate repair plays a crucial role in the development of fistulas.

To assess the nasalance/nasality relationship and Nasometer test sensitivity and specificity when nasality ratings are obtained with both equal appearing interval (EAI) and direct magnitude estimation (DME) scaling procedures. To test the linearity of the relationship between nasality ratings obtained from different perceptual scales.

Audio recordings of the Turtle Passage.

Participants' nasalance scores and audio recordings were obtained simultaneously. A single judge rated the samples for nasality using both EAI and DME scaling procedures.

Thirty-nine participants 3 to 17 years of age. Across participants, resonance ranged from normal to severely hypernasal.

Nasalance scores and two nasality ratings.

The magnitude of the correlation between nasalance scores and EAI ratings of nasality (r= .63) and between nasalance and DME ratings of nasality (r= .59) was not significantly different. Nasometer test sensitivity and specificity for EAI-rated nasality were .71 and .73, respectively. For DME-rated nasality, sensitivity and specificity were .62 and .70, respectively. Regression of EAI nasality ratings on DME nasality ratings did not depart significantly from linearity.

No difference was found in the relationship between nasalance and nasality when nasality was rated using EAI as opposed to DME procedures. Nasometer test sensitivity and specificity were similar for EAI-and DME-rated nasality. A linear model accounted for the greatest proportion of explained variance in EAI and DME ratings. Consequently, clinicians should be able to obtain valid and reliable estimates of nasality using EAI or DME.

Mucous cysts of the nose are a rare complication of rhinoplasty. They may develop as a result of implantation or herniation of mucosa. The entrapped epithelium may proliferate, forming a subcutaneous cyst.

Two patients with unilateral cleft lip nose deformity had previously undergone corrective rhinoplasty. Years after the operation, they noticed a growing mass in the nasal dorsum and presented for revision rhinoplasty. Complete surgical removal was performed by an open approach, and plastic reconstruction was performed with a rib cartilaginous graft.

In both cases, histopathological investigation revealed a mucous cyst. No recurrence of disease was observed over 2 years of monitoring.

Nasal mucous cysts are not specific complications of corrective surgery for cleft lip nose. Displacement of fragments of epithelium should be avoided to prevent this unwanted sequela. For complete removal, open rhinoplasty is recommended.