The Cleft Palate Craniofacial Journal

Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only.

Retrospective chart review.

Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up.

The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate.

Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years.

The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months.

Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

To explore older adults' experiences of living with cleft lip and/or palate (CL/P), focusing on aging and appearance.

An exploratory-descriptive qualitative study.

Individual semi-structured interviews (five via telephone, one face-to-face) conducted with six adults between the ages of 57 and 82 years.

Interview transcripts were analyzed using interpretative phenomenological analysis, which resulted in five themes: cleft across the life span, keeping up appearances, being one of a kind, resilience and protection, and cleft in an ever-changing society. A CL/P had an ongoing impact on participants' lives, although its relevance shifted over time and some aspects of life (e.g., romantic relationships, decisions about having children of their own) were particularly affected. Participants seemed at ease living with CL/P as an older adult and considered it an important aspect of their identity, yet they still described feeling isolated at times and had little contact with other people with a cleft. They felt that health care could be more considerate to the needs of older people with a cleft, particularly around dentistry and information provision. Participants thought societal attitudes toward visible differences had changed over the years, but not necessarily for the better. A paradox was evident between reports of being noticed by others because of their cleft and simultaneously feeling invisible or ignored because of their age.

These findings have implications for provision of care for older adults with a CL/P and for younger people with a CL/P who will be the older generation of the future.

The aim of this work was to fine-map the region 6q23.1, which obtained suggestive linkage signal (logarithm of the odds [LOD] score = 2.22 under a recessive model) to cleft lip with or without cleft palate (CL±P) in our previous genome-wide linkage scan to identify possible genetic variants that may contribute to CL±P.

We used densely spaced markers spanning the entire 6q23.1 region to test for association with CL±P in a family cohort sample.

Clinical information and DNA samples were obtained from families in the Philippines at their homes or primary health care clinics.

The study sample consisted of 477 subjects (224 females and 253 males), segregating isolated CL±P, from 72 living in the same area in the Philippines.

Overtransmission of alleles to persons born with CL±P.

We found statistical evidence of association between a marker of TULP4 (rs651333) with CL±P (P = .00007).

Our results further support the linkage results for the chromosome 6q region and reveal a novel candidate gene for CL±P.

The aim of this study is to identify direct AP2α target genes implicated in craniofacial morphogenesis.

AP2α, a product of the TFAP2A gene, is a master regulator of neural crest differentiation and development. AP2α is expressed in ectoderm and in migrating cranial neural crest (NC) cells that provide patterning information during orofacial development and generate most of the skull bones and the cranial ganglia. Mutations in TFAP2A cause branchio-oculofacial syndrome characterized by dysmorphic facial features including cleft or pseudocleft lip/palate. We hypothesize that AP2α primes a distinctive group of genes associated with NC development. Human promoter ChIP-chip arrays were used to define chromatin regions bound by AP2α in neural crest progenitors differentiated from human embryonic stem cells.

High-confidence AP2α-binding peaks were detected in the regulatory regions of many target genes involved in the development of facial tissues including MSX1, IRF6, TBX22, and MAFB. In addition, we uncovered multiple single-nucleotide polymorphisms (SNPs) disrupting a conserved AP2α consensus sequence.

Knowledge of noncoding SNPs in the genomic loci occupied by AP2α provides an insight into the regulatory mechanisms underlying craniofacial development.

The visible Z-shaped upper lip scar that occurs after the Tennison and Randall triangular flap technique remains a cleft stigma. Herein, we present our curvilinear transformation technique for the Z-shaped upper lip scar by diamond-shaped excision and evaluate the results using photogrammetric analyses.

From 1997 to 2006, 23 patients with secondary cleft lip deformity with the visible Z-shaped upper lip scar underwent correction with the technique. The scar was excised in the diamond shape above the muscle. After curvilinear closure, the elongated length of the upper lip was excised just below the nostril sill, as the measured Cupid's bow height discrepancy. The result was assessed by the authors' standardized photogrammetry technique.

There was a statistically significant decrease between the preoperative central limb of the Z-shaped scar and the width of the postoperative curvilinear upper lip scar. The pre- and postoperative Cupid's bow height differences were not statistically significant.

The curvilinear transformation of the Z-shaped scar is an efficient procedure that provides (1) a significant decrease in the width of an upper lip scar to make it less conspicuous, (2) incorporation of the scar into the philtral column, (3) a biconcave natural philtral column shape in frontal view, and (4) formation of the natural concave philtral contour in profile view.

The purpose of this study was to quantify anteroposterior facial soft tissue changes with respect to underlying skeletal movements after Le Fort I maxillary advancement surgery by using lateral cephalograms taken before and after the operation.

The study group consisted of 20 patients (10 women, 10 men; mean age 23.4 ±1.4 years) having a Class III skeletal deformity caused by a retrognathic maxilla. All patients were treated by Le Fort I maxillary advancement osteotomy. Lateral cephalograms were taken before and 1.6 ± 0.4 years after surgery.

The anteroposterior position of A-point and anteroposterior position of maxillary incisor were significantly protracted (–2.69 ± 3.34 and 2.68 ± 3.21, respectively; P < .01). The nasal anteroposterior and superoinferior positions (NASALAP and NASALSI, respectively) were significantly changed (–2.70 ± 6.81, P < .01, and 2.55 ± 5.80, P < .05, respectively) and nasal elevation and protraction were observed after Le Fort I maxillary advancement surgery.

The changes in anteroposterior and superoinferior positions of A-point were correlated with the nasal superoinferior position (r = −0.71, P < .05; r = 0.72, P < .05) after Le Fort I maxillary advancement surgery.

To compare health-related quality of life and oral health–related quality of life between nonsyndromic individuals with and without cleft lip and/or cleft palate and to identify the most affected quality of life dimensions in individuals with cleft lip and/or palate.

Systematic review and meta-analysis were conducted. Of the 314 identified citations, 23 articles were submitted to quality assessment. Data from nine studies on health-related quality of life and six on oral health–related quality of life were extracted for meta-analysis.

Pooled mean differences of health-related quality of life between adults with and without cleft lip and/or palate, pooled means of health-related quality of life dimensions of children and adults with cleft lip and/or palate and oral health–related quality of life dimensions of children and adolescents with cleft lip and/or palate with a 95% confidence interval were calculated.

Quality assessment revealed methodological differences between studies. Lack of subgroup stratification and absence of control for confounders were the main limitations. Heterogeneity was detected on the comparison of oral health–related quality of life and health-related quality of life between children with and without cleft lip and/or palate, and oral health–related quality of life between adolescents with and without cleft lip and/or palate. A random-effect model showed a significant difference on health-related quality of life between adults with and without cleft lip and/or palate (mean difference = 0.10; 95% confidence interval, 0.16 to 0.05). Psychological health (mean, 78.9; 95% confidence interval, 70.1 to 87.7) and vitality (mean, 68.1; 95% confidence interval, 48.0 to 88.1) were the most affected health-related quality of life dimensions in children and adults with cleft lip and/or palate, respectively. Means of health-related quality of life dimensions in children and adults with cleft lip and/or palate and oral health–related quality of life in children and adolescents with cleft lip and/or palate varied yet did not differ in indirect comparisons.

The presence of cleft lip and/or palate negatively affected the health-related quality of life of adults, mainly on psychosocial dimensions.

Nasalance scores have traditionally been used to assess hypernasality. However, resonance disorders are often complex, and hypernasality and nasal obstruction may co-occur in patients with cleft palate. In this study, normal speakers simulated different resonance disorders, and linear discriminant analysis was used to create a tentative diagnostic formula based on nasalance scores for nonnasal and nasal speech stimuli.

Eleven female participants were recorded with the Nasometer 6450 while reading nonnasal and nasal speech stimuli. Nasalance measurements were taken of their normal resonance and their simulations of hyponasal, hypernasal, and mixed resonance.

A repeated-measures analysis of variance revealed a resonance condition–stimuli interaction effect (P < .001). A linear discriminant analysis of the participants' nasalance scores led to formulas correctly classifying 64.4% of the resonance conditions. When the hyponasal and mixed resonance conditions with obstruction of the less patent nostril were removed from the analysis, the resultant formulas correctly classified 88.6% of the resonance conditions.

The simulations produced distinctive nasalance scores, enabling the creation of formulas that predicted resonance condition above chance level. The preliminary results demonstrate the potential of this approach for the diagnosis of resonance disorders.

To determine the prevalence of cardiac, cervical spine, and carotid artery abnormalities in patients with 22q11.2 deletion syndrome (22q11.2DS) undergoing surgery for velopharyngeal dysfunction (VPD), associations between the presence of these abnormalities, and whether these abnormalities caused changes in surgical management or perioperative complications.

Retrospective review.

Tertiary pediatric hospital.

Seventy patients with 22q11.2DS with complete preoperative cervical vascular and spine imaging and cardiac evaluation between 1998 and 2011.

Incidence of cardiac, cervical spine, and vascular abnormalities; related perioperative complications; and resulting changes in surgical, anesthetic, or perioperative management plan.

Cardiac abnormalities occurred in 45 patients (64.3%), and 8 patients required cardiac anesthesia. Thirty-eight patients (54.3%) had at least one vascular abnormality of the neck, and 14% had medial deviation of the internal carotid artery. Surgery was not performed in one patient, and the surgical plan was altered in three patients because of carotid anomalies. Cervical spine abnormalities were found in 24 patients (34.3%); 8 patients demonstrated radiographic evidence of cervical instability and were treated with spinal precautions during surgery. The presence of one anomaly was not predictive of any other finding, and there were no complications related to the heart, cervical spine, or carotid arteries.

Anomalies of the heart, cervical spine, and cervical vasculature occur frequently in 22q11.2DS, vary drastically in severity, and are impossible to predict based on other features of the syndrome. Preoperative diagnosis of these comorbidities with routine imaging can minimize the risk of avoidable surgical complications.

To study the growth of children with complete unilateral cleft lip and palate (UCLP) from 2 to 10 years of age and to assess whether growth varied from that of children without UCLP (typical children).

Physical growth was one of the outcome measures of a National Institutes of Health–sponsored longitudinal, prospective clinical trial conducted by the University of Florida and the University of São Paulo.

Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), Bauru, Brazil.

Height and weight were prospectively measured for 360 healthy children with UCLP who were nonsyndromic, belonged to median socioeconomic status, and received health care at HRAC-USP. To compare growth of children with UCLP to that of typical children, growth curves for UCLP were developed and compared with World Health Organization curves for 2006 and 2007, which were used as reference for typical children. Third-degree polynomials were used to explain the relationship of length and weight with age. Confidence limits of 95% were used for the mean curve using the statistic Z ~ N (0,1).

Children with UCLP from 2 to 10 years old presented height and weight growth curves similar to those of typical children for both genders.

Children with UCLP from 2 to 10 years old presented physical growth similar to that of typical children.

This study explored posterior nasopharyngeal augmentation with an acellular dermal matrix sheeting.

Evaluation of the persistence and safety of a submucosal implant of rolled acellular dermis over a 3-month period in a piglet model.

Institute Hills Facility, part of the Mayo Clinic Rochester health care facility.

Fifteen 5-week-old domestic piglets of unspecified gender.

Twelve piglets were implanted at age 5 weeks with a rolled sheet of acellular dermal matrix (Strattice). Implants were inserted in a submucosal pocket in the soft palate. Three piglets underwent sham operations, with creation of submucosal pockets without implantation. After a 3-month observation period, the palates were harvested for evaluation.

Grossly, persistence of bulk at the surgical site in 5 of the 12 implanted piglets was noted at 3 months. Histologically, no persistence of the dermal matrix could be observed. Incorporation and/or resorption of the dermal matrix occurred with minimal to no host inflammatory response.

This experiment demonstrated the safety of a rolled acellular dermal implant in a submucosal location in a pig model, without surgical complication, host inflammatory reaction, or rejection. Minimal, if any, bulk of the implant persisted in the implanted location after 3 months. Although acellular dermal matrix sheeting appears to be safe and well-tolerated, it does not offer a long-term treatment option for posterior pharyngeal augmentation.

Hemifacial microsomia (HFM) is a congenital anomaly characterized by unilateral underdevelopment of the mandible and ear. This study was conducted to characterize maxillofacial morphology and dental development in Japanese patients with HFM.

This is a retrospective hospital-based study.

The subject population comprised 12 boys and 12 girls (average age, 9.3 years) diagnosed with HFM.

We used posteroanterior (PA) and lateral cephalograms obtained at the first visit to analyze maxillofacial morphology and orthopantomograms to compare dental development between the affected and unaffected sides. Dental development was graded according to Nolla's stages of tooth calcification.

PA cephalogram analysis showed that the occlusal plane inclined upward on the affected side in each patient. The mandibular body and ramus were smaller on the affected side than on the unaffected side. Lateral cephalogram analysis showed that the patients tended to have steep mandibles, large gonial angles, and a slightly convex facial structure. The affected side/unaffected side ratio of the mandibular body and ramus correlated with SNB, ANB, convexity, and mandibular plane. The difference in dental development between the affected and unaffected sides was significant at the mandibular molars and the mandibular canine.

This study demonstrates a correlation between lateral and frontal measurement parameters in patients with HFM. The data also showed delayed calcification in the mandibular molars on the affected side.

To evaluate the importance of dental status for long-term outcome after alveolar bone grafting in patients with unilateral cleft lip and palate.

Retrospective longitudinal study.

Cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden.

A total of 67 consecutive patients with unilateral complete cleft lip and palate.

Secondary alveolar bone grafting, prior to the eruption of the permanent canine, was performed at the average age of 10.0 years (range, 8.5 to 12.0 years).

Alveolar bone height was evaluated with the modified Bergland index at 1 and 10 years after surgery.

Of the patients, 97% had modified Bergland index grade I and the remaining 3% had modified Bergland index grade II at 1 year after surgery. At 10 years' follow-up, 43% showed modified Bergland index grade I; 55%, modified Bergland index grade II; and 2% (one patient), modified Bergland index grade III. The degree of dental anomalies in the cleft area, such as enamel hypoplasia, incisor rotation, incisor inclination, canine inclination, and oral hygiene registered preoperatively, all correlated negatively to the modified Bergland index at 10 years after surgery. Enamel hypoplasia (ρ = 0.70195, P < .0001), followed by canine inclination (ρ = 0.55429, P < .0001), showed the strongest correlation to reduced bone height in the cleft area.

In patients with unilateral cleft lip and palate, excellent results from secondary alveolar bone grafting in terms of bone height in the alveolar cleft tend to decrease with time. This seems to be correlated with factors that might to some extent be treated preoperatively through adequate planning and execution of the orthodontic treatment.

To present the case report of a patient with expanded hemifacial microsomia (HFM) that illustrates the complex interactions of these embryogenic factors and to review current theories and mechanism regarding the etiopathogenesis of HFM.

We present the case of an African American girl who was born at full term by cesarean section and transferred to our institution for systemic malformations. Her craniofacial findings include holoprosencephaly, cleft lip and palate, low set and posteriorly rotated ears, flat midfacial features, micrognathia, left HFM with grade 1 microtia, hypoplastic mandible, and a small preauricular pharyngeal arch remnant. Systemic anomalies included ectopic kidney, atrial-septal defect, bilateral hip dysplasia, bilateral humeroradial fusion, bilateral club feet, and bilateral low-set thumbs with the right side also being triphalangeal. Genetic evaluation did not identify a molecular diagnosis or other known syndrome.

Although vasculogenic disruption of the stapedial artery during early fetal gestation has been implicated in the etiology of HFM, the grouping and bilateral findings seen in our patient argue against this relatively simple and localized phenomenon. Instead, such diverse and widespread anomalies in the setting of expanded spectrum HFM seem to support the theory of a disorder in blastogenesis as the cause of HFM.