Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

Objective: This review was conducted to define the natural history of unoperated Beckwith-Wiedemann syndrome (BWS) macroglossia and the effect of tongue reduction surgery upon breathing, eating, speaking and dentoskeletal development in individuals having BWS. Design: This is a retrospective study of medical records. SETTING: All patients were evaluated and treated in one of two Children's Hospitals by an ACPA approved Craniofacial Team. PATIENTS/PARTICIPANTS: Medical records were reviewed of 526 individuals having a diagnosis of BWS and evaluated in-person by a single craniofacial surgeon between 1986 and 2014 in conjunction with a series of multi-disciplinary craniofacial team colleagues. 28 individuals were excluded having had multiple tongue reductions elsewhere. 498 individuals comprise the "pre tongue-reduction group". The "post tongue-reduction group" consists of 391 individuals who underwent surgical tongue reduction by one surgeon using one technique between 1986 and 2014. MAIN OUTCOME MEASURES: The primary outcome measure was change in anterior dental occlusion following tongue reduction surgery. Tongue reduction surgery was performed on the assumption that it would improve dentoskeletal relationships. Secondary outcome measures were: breathing, feeding/swallowing, and speech. Results: A significant difference (p<0.001) over time between the two groups was found with less anterior occlusal abnormality in the tongue reduction group. Tongue reduction surgery had no mortality and minimal morbidity for breathing, feeding/swallowing, and speech and can ameliorate obstructive sleep apnea. Conclusions: Surgical tongue reduction for BWS macroglossia is recommended for the infant or child in primary dentition with a grossly abnormal anterior tooth/jaw relationship and/or obstructive sleep apnea.

Adult Quality of Life Post Cleft Palate Repair: A Comparison of Two Techniques.

BACKGROUND AND PURPOSE: In 1989, the Cleft Palate-Craniofacial Journal published the first randomized prospective cleft surgery study, comparing the Kriens intravelar veloplasty (IVV) with a non-IVV 2-flap repair. Results in that and follow-up publications yielded no difference between the 2 groups for need for secondary velopharyngeal management. The subjects have now reached adulthood. This study was designed to ask: Is there any difference between the groups in the outcomes that multidisciplinary team care addresses: speech intelligibility, facial growth, breathing while awake and asleep, attainment of education, and long-term socioeconomic status? METHODS: Enrollees from the original published study were invited to participate in a survey. Subjects responded to questions about speech therapy and speech satisfaction, additional surgery, breathing patterns, sleep quality/sleep disorder, and dental occlusion. Demographic information, information on education level, profession, and socio-economic status were queried. Student t test and Fisher exact test were used to compare results. RESULTS: Forty-two of the original 200 patients (20 Kriens IVV and 19 non-IVV) chose to participate. Average age at survey was 25 ±â€Š3 years. Analysis yielded no difference between the 2 respondent groups for need for secondary velopharyngeal management. There were no differences in speech outcome and satisfaction (8 questions, 0.30 < P < 0.97), sleep concerns (3 questions, 0.16 < P < 0.39), and dental occlusion (P = 0.69). Equivalent proportions of the 2 groups had been in speech therapy (P = 0.22). There was no difference in education attainment of the 2 groups (P = 0.26). CONCLUSIONS: The original randomized prospective trial suggested that there was no difference between the 2 surgery types in need for secondary velopharyngeal management. This long-term survey study on the same group of patients suggests that in young adulthood, the 2 groups have similar outcomes in terms of education, career choice, speech satisfaction, dental occlusion, and sleep disorder.

Intracranial volume and whole brain volume in infants with unicoronal craniosynostosis.

OBJECTIVE: Craniosynostosis has been hypothesized to result in alterations of the brain and cerebral blood flow due to reduced intracranial volume, potentially leading to cognitive deficits. In this study we test the hypothesis that intracranial volume and whole brain volume in infants with unilateral coronal synostosis differs from those in unaffected infants. DESIGN: Our study sample consists of magnetic resonance images acquired from 7- to 72-week-old infants with right unilateral coronal synostosis prior to surgery (n  =  10) and age-matched unaffected infants (n  =  10). We used Analyze 9.0 software to collect three cranial volume measurements. We used nonparametric tests to determine whether the three measures differ between the two groups. Correlations were calculated between age and the three volume measures in each group to determine whether the growth trajectory of the measurements differ between children with right unicoronal synostosis and unaffected infants. RESULTS: Our results show that the three volume measurements are not reduced in infants with right unicoronal synostosis relative to unaffected children. Correlation analyses between age and various volume measures show similar correlations in infants with right unicoronal synostosis compared with unaffected children. CONCLUSIONS: Our results show that the relationship between brain size and intracranial size in infants with right unicoronal synostosis is similar to that in unaffected children, suggesting that reduced intracranial volume is not responsible for alterations of the brain in craniosynostosis.

New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis.

Premature closure of the sagittal suture occurs as an isolated (nonsyndromic) birth defect or as a syndromic anomaly in combination with other congenital dysmorphologies. The genetic causes of sagittal nonsyndromic craniosynostosis (NSC) remain unknown. Although variation of the dysmorphic (scaphocephaly) skull shape of sagittal NSC cases has been acknowledged, this variation has not been quantitatively studied three-dimensionally (3D). We have analyzed the computed tomography skull images of 43 infants (aged 0.9-9 months) with sagittal NSC using anatomical landmarks and semilandmarks to quantify and characterize the within-sample phenotypic variation. Suture closure patterns were defined by dividing the sagittal suture into three sections (anterior, central, posterior) and coding each section as 'closed' or 'fused'. Principal components analysis of the Procrustes shape coordinates representing the skull shape of 43 cases of NSC did not separate individuals by sex, chronological age, or dental stages of the deciduous maxillary first molar. However, analysis of suture closure pattern allowed separation of these data. The central section of the sagittal suture appears to be the first to fuse. Then, at least two different developmental paths towards complete fusion of the sagittal suture exist; either the anterior section or the posterior section is the second to fuse. Results indicate that according to the sequence of sagittal suture closure patterns, different craniofacial complex shapes are observed. The relationship between craniofacial shape and suture closure indicates not only which suture fused prematurely (in our case the sagittal suture), but also the pattern of the suture closure. Whether these patterns indicate differences in etiology cannot be determined with our data and requires analysis of longitudinal data, most appropriately of animal models where prenatal conditions can be monitored.

Mandibular distraction osteogenesis for Pierre Robin sequence: what percentage of neonates need it?

Neonates with Pierre Robin sequence have respiratory distress caused by glossoptosis due to microretrognathia. Numerous therapeutic maneuvers have been used to stabilize the upper airway in these patients. The purpose of this study is to document the frequency with which each of these maneuvers is used, including the newest technique of mandibular distraction osteogenesis, in a single hospital with a large obstetrical service (22,646 deliveries between July 1, 2003, and June 30, 2006).The neonatal intensive care unit records for 3 consecutive years were reviewed retrospectively to identify all neonates with a diagnosis of respiratory distress (40%). Fifteen of these were classified as having Pierre Robin sequence, of whom, 9 did not have other craniofacial anomalies. The neonates with confounding additional congenital anomalies were excluded. The included neonates underwent airway and craniofacial evaluations by experienced pediatric otolaryngologists, craniofacial plastic surgeons and, occasionally, pediatric pulmonologists. Nonsurgical upper airway stabilization was attempted initially for all neonates. Four neonates with isolated Pierre Robin sequence could not be stabilized nonsurgically and underwent mandibular distraction in lieu of tracheotomy. Two of these subsequently required tracheotomy for reasons other than microretrognathia and glossoptosis. The remaining 5 Pierre Robin sequence neonates were stabilized without surgery and discharged home on room air.The treatment of neonatal upper airway obstruction due to Pierre Robin sequence includes both nonsurgical and surgical interventions. Use of a therapeutic algorithm can optimize nonsurgical management and minimize the need for tracheotomy. Mandibular distraction osteogenesis is an effective treatment to avoid tracheotomy in carefully selected Pierre Robin sequence neonates.

Brain morphology in nonsyndromic unicoronal craniosynostosis.

Studies of isolated craniosynostosis have shown biomechanical and biochemical influences on the craniofacial phenotype, resulting from both genetic and epigenetic factors. Much less attention has been directed toward the morphology of the brain, despite the interactive nature of the developing skull and developing brain. The aim of this study is to define the morphology of the brain in nonsyndromic unilateral coronal synostosis (UCS) in order to form more complete hypotheses about the cause of craniosynostosis. Landmark coordinate data were collected from 3D magnetic resonance image reconstructions of the brain in a sample of UCS patients and an age-matched morphologically normal cohort. These data were analyzed using Euclidean distance matrix analysis. The results of our study demonstrate that despite the basic similarity of overall shape of the brain and skull in UCS, the effects of craniosynostosis on the brain are not localized to structures immediately adjacent to the fused suture or to the endocranial surface of the skull. Rather, alterations are observed throughout the volume of the brain, with subcortical structures altered in conjunction with cortical changes. These results indicate that the morphological correlates are different for brain and skull and suggest that there is a large degree of independence in the developmental trajectories of the brain and skull.

Progressive Tightening of the Levator Veli Palatini Muscle Improves Velopharyngeal Dysfunction in Early Outcomes of Primary Palatoplasty.

BACKGROUND: Management of the levator veli palatini with intravelar veloplasty has been shown to improve speech resonance. The senior author has introduced a more aggressive procedure where the levator is separately dissected, overlapped, and tightened. This study compares resonance results from four levator management protocols: non-intravelar veloplasty, Kriens intravelar veloplasty, radical intravelar veloplasty, and overlapping intravelar veloplasty. METHODS: Retrospective chart review was conducted on 252 patients who underwent primary palatoplasty with speech follow-up at 3 years of age. Velopharyngeal function was evaluated with perceptual speech examinations, and subjects were scored on a four-point scale (0 = normal resonance; 1 = occasional hypernasality/nasal emission/turbulence/grimacing, no further assessment warranted; 2 = mild hypernasality/intermittent nasal turbulence/grimacing, velopharyngeal imaging suggested; and 3 = severe hypernasality, surgical intervention recommended). Fisher's exact test was used to compare outcomes. RESULTS: A single surgeon performed all the non-intravelar veloplasty (n = 92), Kriens intravelar veloplasty (n = 103), and radical intravelar veloplasty (n = 31), whereas the senior author performed the overlapping intravelar veloplasty (n = 26). Cleft severity proportions were equivalent across the four methods (p = 0.28). Patients who underwent overlapping intravelar veloplasty demonstrated significantly better velopharyngeal function, and none required further imaging or secondary surgery compared with the other three procedures (p < 0.001). CONCLUSIONS: Speech resonance outcomes at 3 years of age are improved and need for secondary velopharyngeal dysfunction management is reduced with more aggressive levator dissection and reconstruction during primary one-stage palatoplasty. Results were best when the muscle was overlapped. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

The evaluation and management of velopharyngeal dysfunction.

Several interventions are available for management of VPD. Using an approach of differential management based on differential diagnosis, VPD can be effectively treated in most patients. The current challenge for the VPD care team, however, is to resolve the signs and symptoms of VPD without exchanging them for a different but an equally or more morbid set of signs and symptoms.

Effect of distraction osteogenesis of the mandible on upper airway volume and resistance in children with micrognathia.

Children with craniofacial anomalies often have compromise of the upper airway, a condition with potential for morbidity and mortality. In children with microretrognathia, the diminutive size and retruded position of the mandible reduces the size of the oropharynx, thereby predisposing to glossoptosis and airway obstruction. Although several authors have reported successful use of mandibular distraction osteogenesis to alleviate this type of upper airway obstruction, the physiologic relationship between changes in mandibular shape, size, and position and upper airway dynamics remains undefined. The purpose of this study was to develop methodologies to quantitatively evaluate upper airway dynamics in children with micrognathia both before and after mandibular distraction osteogenesis. The patient population consisted of four children with micrognathia who had successfully undergone upper airway stabilization by bilateral mandibular distraction osteogenesis. The data used were digitally archived computed tomographic scan data from high-resolution, thin-slice head computed tomographic scans obtained before and after mandibular distraction. Upper airway evaluation was performed in two ways: static and dynamic. Static analysis consisted of computer quantification of predistraction and postdistraction mandibular and upper airway volumes using Analyze imaging software. Dynamic analysis consisted of fabrication of rigid stereolithographic hollow cast models of the upper airway produced from computed tomographic scan data. Models were used for characterization of upper airway resistance and flow patterns as related to respiration. After distraction osteogenesis, mandibular total volume increased 32, 32, 18, and 25 percent (mean, 27 percent) and upper airway volume increased by 20, 31, 23, and 71 percent (mean, 37 percent). A significant decrease in flow resistance, both inspiratory and expiratory, was observed in the patient with the greatest upper airway volume increase (71 percent) after distraction. After distraction, the inspiratory resistance was diminished by 51 percent and the expiratory resistance diminished by 85 percent. However, the three patients with more modest upper airway volume increases of 20 to 31 percent demonstrated no statistically significant change in flow resistance after distraction. Results of this study support the conclusion that distraction osteogenesis of the micrognathic mandible increases the volume of the upper airway, roughly paralleling the increase in mandibular volume. In the biomechanical airway model studied, upper airway volume expansion has been shown to be able to decrease the flow resistance over the length of the airway, presumably secondary to an increase in the average cross-sectional area. The artificial rigidity of the stereolithographic "airway" compared with the elasticity of the human upper airway may account for the insensitivity of this model to smaller but clinically significant airway changes.