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.

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.

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.

Velo-pharyngeal dysfunction: Evaluation and management.

Separation of the nasal and oral cavities by dynamic closure of the velo-pharyngeal port is necessary for normal speech and swallowing. Velo-pharyngeal dysfunction (VPD) may either follow repair of a cleft palate or be independent of clefting. While the diagnosis of VPD is made by audiologic perceptual evaluation of speech, identification of the mechanism of the dysfunction requires instrumental visualization of the velo-pharyngeal port during specific speech tasks. Matching the specific intervention for management of VPD with the type of dysfunction, i.e. differential management for differential diagnosis, maximizes the result while minimizing the morbidity of the intervention.

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.

Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.

BACKGROUND: Carpenter syndrome, or acrocephalopolysyndactyly type II, is a disorder associated with an autosomal recessive pattern of inheritance. Because of its rarity, limited insight into the anomalies associated with this syndrome exist and little long-term follow-up of affected patients is available. METHODS: This study is a retrospective review of the clinical history, medical imaging, and therapeutic interventions for three full siblings with Carpenter syndrome over an 18-year period. The medical records were abstracted for kindred analysis, gestational and delivery history, health issues related to Carpenter syndrome, and therapeutic interventions, including indications for, age at, and outcome of. RESULTS: All three children had craniosynostosis, acral deformities, and other associated anomalies. The pattern of craniosynostosis, at birth, varied among the three siblings: one had fusion of the metopic and sagittal sutures and the other two had bilateral coronal, metopic, and anterior sagittal synostoses. All three siblings demonstrated marked absence or underdevelopment of the anterior cranial fossa and bulging of the middle cranial fossa. There was no correlation between the degree of craniofacial dysmorphology and brain dysmorphology in any of the three individuals. Computed tomographic scan data of osseous and brain anatomy and clinical photographs of treatment outcomes are provided to demonstrate the long-term craniofacial development and growth in treated individuals with Carpenter syndrome. CONCLUSIONS: The diverse anatomical variation seen in these three individuals supports the notion of marked phenotypic variability within this disorder. This spectrum of information should aid members of craniofacial teams in appreciating this variability and thereby facilitating the diagnosis and management of individuals with Carpenter syndrome.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five different mutations (four truncating and one missense) in RAB23, which encodes a member of the RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins and acts as a negative regulator of hedgehog (HH) signaling. In 10 patients, the disease was caused by homozygosity for the same nonsense mutation, L145X, that resides on a common haplotype, indicative of a founder effect in patients of northern European descent. Surprisingly, nonsense mutations of Rab23 in open brain mice cause recessive embryonic lethality with neural-tube defects, suggesting a species difference in the requirement for RAB23 during early development. The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity.

Craniofacial morphology in Muenke syndrome.

The purpose of this study was to test whether the severity of the cranial phenotype in Muenke syndrome infants with unicoronal synostosis is greater than in infants with nonsyndromic unicoronal synostosis. A total of 23 infants were included in the study. All infants included in the study had a computed tomography (CT)-verified synostosis of the coronal suture. The patients were either placed into the "Muenke" group (n=11) or the "non-Muenke" control group (n=12) on the basis of a test for the P250R mutation in the FGFR3 gene. On the basis of CT scans, a three-dimensional surface model corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface of the calvaria, cranial base, and maxillary complex. Increased digital markings were more severe posteriorly in Muenke patients than in non-Muenke patients. The Muenke patients with unilateral coronal synostosis showed a somewhat more severe asymmetry in the anterior part of the skull than the non-Muenke patients. The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis.

Identifying reproducible patterns of calvarial dysmorphology in nonsyndromic sagittal craniosynostosis may affect operative intervention and outcomes assessment.

BACKGROUND: The authors tested the premise that there are four distinctive patterns of calvarial dysmorphology in nonsyndromic sagittal craniosynostosis that can be reproducibly recognized. METHODS: Twenty-nine computed tomographic scan data sets of infants met the following criteria: nonsyndromic sagittal craniosynostosis, age younger than 12 months, and satisfactory computed tomographic data. Osseous reformations were constructed in the anteroposterior, right lateral, and vertex projections for each patient. From these images, four templates--coronal constriction, occipital protuberance, bifrontal bossing, and bitemporal protrusion--were selected as prototypes of the specific dysmorphologies the authors observed in patients with sagittal craniosynostosis. Four residents assigned the 29 calvarial image sets to one of the four templates or, if they were unable to do so, to the group "other." The sortings were then assessed for clustering. The same patient computed tomographic data were reformatted with osseous color images, which were then sorted according to template group by eight senior craniofacial surgeons, who repeated the task approximately 3 months later. The repeatability and assessment of clustering of image sets using the templates was evaluated. RESULTS: In the residents' pilot study, 41 percent (12 of 29) of patients had 100 percent concordance rates, 31 percent (nine of 29) had 75 percent concordance, 24 percent (seven of 29) had 50 percent, and 3 percent (one of 29) had 25 percent concordance. In summary, greater than 70 percent of the patient image sets could be sorted with at least 75 percent concordance by residents. In the senior surgeons' study, 90 percent of patients could be identified as falling into two of five possible groups. Senior raters demonstrated nearly 70 percent repeatability between sortings. CONCLUSION: These findings support the hypothesis that there are identifiable and reproducible patterns of varying calvarial dysmorphology in patients with sagittal craniosynostosis.

Phenotypic integration of neurocranium and brain.

Evolutionary history of Mammalia provides strong evidence that the morphology of skull and brain change jointly in evolution. Formation and development of brain and skull co-occur and are dependent upon a series of morphogenetic and patterning processes driven by genes and their regulatory programs. Our current concept of skull and brain as separate tissues results in distinct analyses of these tissues by most researchers. In this study, we use 3D computed tomography and magnetic resonance images of pediatric individuals diagnosed with premature closure of cranial sutures (craniosynostosis) to investigate phenotypic relationships between the brain and skull. It has been demonstrated previously that the skull and brain acquire characteristic dysmorphologies in isolated craniosynostosis, but relatively little is known of the developmental interactions that produce these anomalies. Our comparative analysis of phenotypic integration of brain and skull in premature closure of the sagittal and the right coronal sutures demonstrates that brain and skull are strongly integrated and that the significant differences in patterns of association do not occur local to the prematurely closed suture. We posit that the current focus on the suture as the basis for this condition may identify a proximate, but not the ultimate cause for these conditions. Given that premature suture closure reduces the number of cranial bones, and that a persistent loss of skull bones is demonstrated over the approximately 150 million years of synapsid evolution, craniosynostosis may serve as an informative model for evolution of the mammalian skull.

Long-term osseous morphologic outcome of surgically treated unilateral coronal craniosynostosis.

BACKGROUND: Unilateral coronal craniosynostosis has characteristic osseous dysmorphology that persists into adulthood if untreated. Knowledge of the long-term in vivo osseous morphologic outcome of surgically treated unilateral coronal craniosynostosis patients is limited. The purpose of this study was to define the osseous morphology of adolescent patients who underwent surgery for unilateral coronal craniosynostosis in infancy, compared with both their 1-year postoperative morphology and the morphology of other individuals with untreated unilateral coronal craniosynostosis. METHODS: Three populations of unilateral coronal craniosynostosis were studied: group 1, patients with surgical treatment of unilateral coronal craniosynostosis in infancy who had reached dentoskeletal maturity, ranging in age from 13.5 to 32.7 years (n= 9); group 2, individuals with untreated unilateral coronal craniosynostosis, ranging in age from 1.1 to 21 years (n= 11); and group 3, a subset of group 1 patients 1 year after surgical correction of unilateral coronal craniosynostosis, ranging in age from 1.2 to 2.6 years (n= 6). Data from high-resolution, thin-slice computed tomographic scans of the head were analyzed. Thirty-five reproducible osseous landmarks were recorded as three-dimensional coordinates using ETDIPS imaging software. Nonmidline landmarks were designated as either ipsilateral or contralateral to the synostosis. One researcher performed all landmarking with high intrarater reliability (average error, <2 mm). Data from the three groups were analyzed for asymmetry using Euclidean distance matrix analysis techniques. RESULTS: Euclidean distance matrix analysis asymmetry analysis demonstrated more statistically significant ipsilateral-contralateral asymmetric pairs in group 1 (68 of 135) than in group 3 (25 of 135), but fewer statistically significant ipsilateral-contralateral asymmetric pairs than in group 2 (93 of 135). CONCLUSIONS: Surgical treatment of unilateral coronal craniosynostosis in infancy results in a less asymmetric craniofacial skeleton in adolescence than nontreatment. However, patients who have been followed to dentoskeletal maturity have a greater degree of asymmetry than those evaluated at 1 year postoperatively. These results support the conclusion that with time there is a partial reversion to the untreated phenotype.

Speech, cognitive, and behavioral outcomes in nonsyndromic craniosynostosis.

BACKGROUND: The neuropsychological morbidity of nonsyndromic craniosynostosis is incompletely understood. The purpose of this study was to establish the prevalence of speech-language, cognitive, and behavioral abnormalities in this population and to stratify the findings on the basis of the affected suture and age of diagnosis with speech-language or psychological abnormalities. METHODS: Charts of all patients with nonsyndromic craniosynostosis evaluated between 1978 and 2000 were reviewed, noting diagnoses of speech-language, cognitive, or behavioral abnormalities. Findings were statistically analyzed for variance with regard to affected suture and diagnosis of abnormalities. RESULTS: Two hundred fourteen patients with nonsyndromic craniosynostosis had documented follow-up evaluations with an average age of 6 years 4 months at last visit. Speech, cognitive, and/or behavioral abnormalities were manifest in 49 percent of the patients with specific rates for each suture as follows: right unilateral coronal, 61 percent; bilateral coronal, 55 percent; multiple, 47 percent; metopic, 57 percent; left unilateral coronal, 52 percent; lambdoid, 44 percent; and sagittal, 39 percent. This prevalence of abnormalities was a statistically significant increase from the general population. Logistic regression demonstrated that as patient age increased, the percentage of abnormal diagnoses also increased. CONCLUSIONS: Nonsyndromic craniosynostosis is often associated with cognitive, speech, and/or behavioral abnormalities. The etiopathology of this association is unknown. Furthermore, the proportion of children diagnosed with cognitive and behavioral dysfunction increases with age. Therefore, longitudinal cognitive, behavioral, and speech assessment and treatment are integral to the care of these patients.

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.

Relationship of brain and skull in pre- and postoperative sagittal synostosis.

Models of vertebrate skull evolution stress the coordinated developmental relationship between the skull and the brain that it houses. This study investigates the relationship between altered skull morphology and brain morphology in premature fusion of the cranial sagittal suture (isolated sagittal synostosis; ISS), a condition associated with dysmorphology of both neurocranium and brain. Although the skull displays a more normal shape following reconstructive cranial vault surgery, effects of this surgery on the brain have not been investigated. Landmark coordinate data were collected from three-dimensional magnetic resonance imaging reconstructions of the brain in a sample of ISS patients and an age-matched unaffected cohort. These data were analysed using Euclidean distance matrix analysis (EDMA). Results show that the brain in ISS is dysmorphic preoperatively, displaying a posteriorly directed neural expansion that does not 'worsen' with growth. Postoperatively, the brain in ISS displays a more globular shape overall as compared with the preoperative morphology, but differs from normal in its subcortical morphology. These results show that the ISS brain is altered following neurocranial surgery, but does not more closely approximate that of unaffected individuals. This suggests that although the brain is affected by manipulation of the skull, it retains a growth pattern that is, at least in part, independent of the skull.

Congenital scalp and calvarial deficiencies: principles for classification and surgical management.

Congenital defects of the scalp and skull present a challenge for care providers because of a combination of their rarity and the magnitude of potential morbidity. Recent advancements in autogenous and alloplastic cranioplasty and scalp reconstruction techniques argue for a comprehensive consideration of this problem. This article (1) reviews the causes of congenital scalp and calvarial defects; (2) proposes a classification system based on defect type, similar to the tumor-node-metastasis classification, in that defect location, defect size, and extent of neuromeningeal involvement are the critical variables; and (3) presents algorithms for care based on the defect classification. A set of management principles on which treatment plans can be based for these unique problems is provided.

Coronal ring involvement in patients treated for unilateral coronal craniosynostosis.

The etiopathology of the clinical entity normally referred to as unilateral coronal synostosis is commonly used to connote unilateral fusion of the frontoparietal suture. However, other sutures in the coronal ring may exhibit synostosis concomitant with or independent from frontoparietal synostosis and give rise to similar clinical phenotypes. This study retrospectively analyzes high-resolution computed tomographic data sets to determine patency of sutures within the coronal ring. Computed tomographic scan digital data from 33 infants who subsequently underwent surgical correction of unilateral coronal synostosis were assessed for sutural patency using Analyze imaging software. The frontosphenoidal suture was subdivided into intraorbital frontosphenoidal and extraorbital frontosphenoidal portions, and the patency of the frontoethmoidal suture was also assessed. Patients were sorted into two groups on the basis of the status of their frontosphenoidal sutures: group 1 had patent frontosphenoidal but synostotic frontoparietal sutures (n = 21) and group 2 had both frontosphenoidal and frontoparietal synostoses. Observer reproducibility was tested. The vertical and horizontal dimensions of the bony orbit and the endocranial base deflection angle were measured with the observer blinded with regard to sutural status group. Frontoethmoidal synostosis was not noted in any patients in either group. Two patients had no frontoparietal suture synostosis with isolated intraorbital frontosphenoidal and extraorbital frontosphenoidal suture closures. Suture diagnosis reproducibility was 99 percent. In group 1, the ipsilateral-to-contralateral vertical orbit dimension ratio averaged 1.11, whereas in group 2 it averaged 1.04 (p < 0.05). The ratio of horizontal orbit measurements was not significantly different between groups. In both groups, the endocranial base was deflected ipsilateral to the synostotic frontoparietal suture, with an average angle of 12 degrees in group 1 and 17 degrees in group 2 (p < 0.005). The extent of synostosis along the coronal sutural ring contributes to the dysmorphology of the orbit and the endocranial base deflection in patients whose clinical phenotypic diagnosis is unilateral coronal synostosis.

Accuracy in identification of patients with 22q11.2 deletion by likely care providers using facial photographs.

Numerous facial characteristics are associated with velocardiofacial syndrome. Care providers may use these facial characteristics to identify patients who may benefit from fluorescence in situ hybridization genetic testing to determine the presence of the 22q11.2 deletion. The purpose of this study was to test the hypothesis that experienced care providers were able to correctly diagnose the 22q11.2 deletion on the basis of studying frontal facial photographs. After approval was obtained from the human studies committee, patients who had undergone fluorescence in situ hybridization genetics testing for the presence of a 22q11.2 deletion were asked to submit two frontal photographs: one at infancy and one beyond the second birthday. These photographs were randomized, made anonymous, and then placed on a secure Web site. Specialists in the fields of plastic surgery, otolaryngology, genetics, and speech pathology were asked to evaluate their experience and confidence levels in diagnosing a 22q11.2 deletion and were then asked to rate the photographs by likelihood of deletion using a five-point Likert scale. Thirty-two specialists (10 surgeons, nine geneticists, and 13 speech pathologists) participated in the study. On the basis of clear responses, respondents predicted the presence (sensitivity) and absence (specificity) of the 22q11.2 deletion at chance levels. Of the remaining responses, 20 to 25 percent were unsure and 20 to 25 percent were clearly wrong. When an unsure response was treated as a weak positive, the results favored sensitivity slightly, with a sensitivity of 70 percent and a specificity of 50 percent. Sensitivity improved somewhat with experience, as measured by the number of patients seen per year. The prediction of the presence or absence of the 22q11.2 deletion at chance levels suggests that the ability to diagnose on the basis of appearance alone is not a sufficient diagnostic tool. Although the ability does increase with experience, it is of statistical but not clinical significance.

The effect of timing of surgery for velopharyngeal dysfunction on speech.

The timing of surgery for velopharyngeal dysfunction has been based on assumptions about the relation between age, speech development, and velopharyngeal dysfunction. Cleft palate teams often counsel parents to have an intervention for velopharyngeal dysfunction performed earlier rather than later, believing that earlier interventions result in more rapid or better normalization of speech. The objective of this retrospective chart review study is to determine whether the age at surgical intervention for velopharyngeal dysfunction has an effect on the subsequent length of speech therapy. Of 174 patients included in the study database, 36 had velopharyngeal dysfunction for which further velopharyngeal management was required. Of the 36 patients who received surgical velopharyngeal dysfunction management, 27 had verifiable speech therapy records. These 27 patients represent the study population. The outcome measure was the total length of subsequent speech therapy until speech normalization. The data suggest that there is no relation between the age at velopharyngeal dysfunction surgical management and the amount of speech therapy needed to achieve normalization of the speech impairments secondary to velopharyngeal dysfunction after that management. In conclusion, 1) the age at surgical velopharyngeal dysfunction management (pharyngeal flap or sphincter pharyngoplasty) does not have an effect on subsequent normalization of speech as measured by the duration of speech therapy necessary to achieve normalization of the speech impairments secondary to velopharyngeal dysfunction after that management, and 2) the age at surgical velopharyngeal dysfunction management does not affect the likelihood of subsequent surgical velopharyngeal dysfunction management procedures.