Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.

Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1 gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in SMCHD1 gene (c.1418A>T; p.Glu473Val) presenting hemiarhinia associated with short stature and hypogonadotropic hypogonadism. Due to the clinical variability of BAMS, we considered that hemiarhinia, without microphthalmia, in the present case, can be considered a mild form of BAMS and could be considered for screening of SMCHD1 gene variation.

Analysis of intracranial pressure waveform using a non-invasive method in individuals with craniosynostosis.

PURPOSE: Craniosynostosis can lead to symptoms resulting from cranial compliance (CC) changes and intracranial hypertension (ICH), which may cause cognitive and visual impairment. Non-invasive methods have emerged, including a new device that captures and processes the intracranial pressure waveform (ICPw) by the skull's oscillation. The present study evaluates ICPw obtained non-invasively (NIICPw) in patients with craniosynostosis. METHODS: This prospective, cross-sectional, and descriptive study was conducted at a single center. Patients diagnosed with craniosynostosis and who provided informed consent were included. A US Food and Drug Administration-approved mechanical extensometer device (Brain4Care Corp.) was used to obtain a NIICPw. An ophthalmologist did a point-of-care retinography to check the optic nerve papilla. The P2/P1 ratio and the morphology of the NIICPw were analyzed, as well as the retinography. RESULTS: Thirty-five patients were evaluated, and 42 registers were obtained because seven were assessed before and after the surgery. The two patients who presented papilledema had low CC (NIICPw shape Class 3 or 4). There was a significant association between NIICPw and papilledema. CONCLUSION: The ratio P2/P1 and the NIICPw morphology provided by a non-invasive monitor are related to CC changes before papilledema occurs. This is especially useful in patients with craniosynostosis because invasive ICP monitoring is not always feasible. Further studies are warranted to establish the clinical utility of NIICPw in patients with craniosynostosis.

Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

INTRODUCTION: Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up. OBJECTIVE: Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth. METHODS: Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height. RESULTS: The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition. CONCLUSIONS: RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.

Microneedling in the Treatment of Post-burn Hypertrophic Scars.

INTRODUCTION: Post-burn hypertrophic scars are an important cause of physical discomfort, limitation of movements, psychological disorders, low self-esteem and reduced quality of life. Treatment for this condition is complex and involves several options. Microneedling, also known as minimally invasive percutaneous collagen induction, is an affordable minimally invasive option that can be combined with other treatments, including ablative ones. OBJECTIVE: The goal of this study was to present our microneedling approach for the treatment of hypertrophic scars after burns. METHOD: A prospective study of 15 patients with post-burn hypertrophic scars was conducted between October 2016 and June 2022. All patients were treated with microneedling and drug delivery of triamcinolone. Scars were evaluated using Vancouver Scar Scale (VSS), Burn Scar Assessment Scale (BSAS) and angle measurement for amplitude of movement evaluation of joints. RESULTS: A significant improvement in the VSS score was obtained after microneedling (8.8 ± 0.44 to 4.1 ± 0.98; p = 0.012), especially in the acute group (less than 1 year after burns): 9.3 ± 0.49 to 3.5 ± 1.36; p = 0.041. There was a significant and progressive improvement of the scars throughout the treatment sessions in all criteria evaluated and in the ranges of joint movement (p = 0.012). CONCLUSION: Our microneedling protocol promoted a significant improvement of post-burn scars, especially in acute hypertrophic scars, and in the amplitude of joint motion. Sequential treatments provided progressive improvement. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Geographical Inequalities in Access to Bellwether Procedures in Brazil.

BACKGROUND: Brazil is a middle-income country that aims to provide universal health coverage, but its surgical system's efficiency has rarely been analyzed. In an effort to strengthen surgical national systems, the Lancet Commission on Global Surgery proposed bellwether procedures as quality indicators of surgical workforces. This study aims to evaluate regional inequalities in access to bellwether procedures and their associated mortality across the five Brazilian geographical regions. METHODS: Using DATASUS, Brazil's national healthcare database, data were collected on the total amount of performed bellwether procedures-cesarean section, laparotomy, and open fracture management-and their associated mortality, by geographical region. We evaluated the years 2018-2020, both in emergent and elective conditions. Statistical analysis was performed by one-way ANOVA test and Tukey's multiple comparisons test. RESULTS: During this period, DATASUS registered 2,687,179 cesarean sections, 1,036,841 laparotomies, and 648,961 open fracture treatments. The access and associated mortality related to these procedures were homogeneous between the regions in elective care. There were significant geographical inequalities in access and associated mortality in emergency care (p < 0.05, 95% CI) for all bellwether procedures. The Southeast, the most economically developed region of the country, was the region with the lowest amount of bellwether procedures per 100,000 inhabitants. CONCLUSION: Brazil's public surgical system is competent at promoting elective surgical care, but more effort is needed to fortify emergency care services. Public policies should encourage equity in the geographic allocation of the surgical workforce.

Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies.

OBJECTIVE: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). DESIGN: Descriptive, cross-sectional, retrospective study. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. OUTCOME MEASURES: Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. RESULTS: A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients ( P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. CONCLUSION: Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.

Speech Outcomes Audit for Unilateral Cleft lip and Palate After 2-Stage Palate Repair: Preliminary Results.

Primary cleft lip and palate surgeries can interfere with speech status, facial appearance, maxillary growth, and psychosocial and academic development. Therefore, different surgical protocols and techniques have been proposed, and adequate velopharyngeal function and speech is the main goal for the treatment success. The present study aimed to report preliminary speech results of the 2-stage palate repair of children with unilateral cleft lip and palate. One hundred seventy nonsyndromic patients with unilateral cleft lip and palate were included in this report, 35% males and 65% females, submitted to the 2-stage palatoplasty protocol, composed by lip, nasal ala, and hard palate repair at 3 to 6 m (stage 1) and soft palate repair at 12 to 18 m (stage 2). The target age range for speech recording was 5 to 10 years, and the speech material included repetition of Brazilian Portuguese sentences. These samples were obtained over 5 years and assessed by 3 of 14 experienced speech pathologists. When discordant, the majority rate was adopted. Average velopharyngeal dysfunction (VPD) rates were 19,5%, varying according to the soft palate technique, with better results when the Sommerlad technique was performed (VPD=11%), followed by Braithwaite (VPD=15%) and then Von Langenbeck (VPD=25%). Passive errors were observed in 32% and active errors in 25%. Speech results reflect the outcomes of an interdisciplinary team's work, where facial growth and nasolabial appearance must also be considered. Further analysis and a wider casuistic are recommended. Hence outcomes audit needs to be a permanent process, providing solid and updated evidence for optimal cleft care.

Craniofacial Microsomia: New Updates in Spinal Anomalies.

INTRODUCTION: Craniofacial microsomia (CFM) involves anomalies of the first and second pharyngeal arches, mainly of the mandible, maxilla, ears, and vertebral spine. This study aimed to identify the frequency and morphology of spinal anomalies of individuals with clinical diagnoses of CFM. In addition, the correlation between spinal anomalies and craniofacial involvement was performed. MATERIALS AND METHODS: This study was a retrospective review of individuals with a clinical diagnosis of craniofacial microsomia. The inclusion criteria were a clinical diagnosis of CFM with no overlap with any other syndromes of first and second pharyngeal arches and radiograph availability in the hospital's database. Prevalence and morphology of spinal anomalies were calculated and clinical details were recorded: types of spinal anomalies and correlations according to OMENS score. RESULTS: The sample consisted of 46 individuals with a clinical diagnosis of CFM, 24 (52,2%) female and 22 (47,8%) male (1M:1F). Twenty-one (45,7%) had unilateral craniofacial involvement and 25 (54,3%), bilateral. Twenty-eight (60,9%) individuals presented spinal anomalies. Those with unaltered spinal morphology showed a slight preference toward OMENS scores under 5: 7 patients did, only one of which had spinal alterations (14,3%); 68,8% (22) in the group with scores 5 to 9 (n=32) and 71,4% (5) in the 10 to 15 group (n=7) did as well. DISCUSSION AND CONCLUSIONS: Spinal anomalies in individuals with CFM are more common than usually reported in medical literature, mainly when associated with radial anomalies and correlate with statistical significance to facial features, mainly the OMENS score.

Craniocervical Instability in Oculoauriculovertebral Spectrum.

INTRODUCTION: The oculoauriculovertebral spectrum (OAVS) are anomalies of the first and second pharyngeal arches, causing craniofacial changes, principally facial asymmetry, as well as anomalies in the spine, that can be a cause of instability of the craniocervical junction - manipulation of an unstable spine can result in morbimortality. However, few studies have related OAVS to craniocervical instability. OBJECTIVES: Correlate patients with OAVS through radiography with craniocervical instability and prediction of its occurrence. MATERIAL AND METHODS: Through a radiographic study of the cervical spine, the assessment of vertebral malformations and the presence of craniocervical instability was performed and clinical assessment using the OMENS score as a phenotypic criteria for patients with OAVS, by a specialized multidisciplinary team. Student's t test, Kolmogorov-Smirnova, and χ 2 were performed. RESULTS: Twenty-six patients with OAVS were evaluated, 7 (26.9%) had craniocervical instability, the OMENS score was 3 times higher, but without statistical significance. All patients with instability also had spinal malformations, and of those without craniocervical instability (19 patients), 57.8% had spinal malformations. Vertebral malformations had a similar incidence in those with and without instability, the most common being scoliosis. There was no statistical significance in the presence or absence of spinal malformations with the presence or absence of craniocervical instability. Extracraniofacial findings were found in all patients with instability; 71.4% of them were radial. CONCLUSIONS: Patients with higher OMENS scores had more craniocervical instability but without statistical significance. It also did not show statistical relevance between the presence of malformations and craniocervical instability.

Congenital Midline Cervical Cleft and Thyroglossal Duct Fibrous Cord-Like, is There a Mixed Presentation?

INTRODUCTION: Congenital midline cervical cleft is a rare condition and is frequently misdiagnosed as thyroglossal duct cyst. Otherwise, the combination of congenital midline cervical cleft and thyroglossal duct fibrosis in the same patient is as rare as important to be registered with the intention to inform and offer specific managements details for the literature. CASE PRESENTATION: Eight-year-old boy with simultaneous congenital midline cervical cleft and a thyroglossal duct fibrosis. The anatomic, clinical, radiologic, and pathologic characteristics of the congenital midline cervical cleft are described as well as surgical technique for removal and repair with Z-plasty. CONCLUSION: Congenital midline cervical cleft is a rare condition and when diagnosed must be surgically treated as early as possible. Its differential diagnosis is a clinical challenge.

Growth Outcomes Audit for Unilateral Cleft Lip and Palate (UCLP) After 2-stage Palate Repair.

PURPOSE: To assess the impact of 1 and 2-stage palatoplasty protocol on the dental arch relationships in unilateral cleft lip and palate (UCLP) in a single center. METHODS: Our study consisted of 349 individuals divided into 2 groups according to the palatoplasty protocol. Two-stage group comprised 169 subjects with UCLP (mean age: 6.9 y, 110 male and 59 female) who underwent lip, nasal ala, and anterior palate repair with vomer flap from 3 to 6 months (first surgery stage). Soft palate repair occurred from 12 to 18 months (second surgery stage). The one-stage group comprised 180 subjects with UCLP (mean age: 7.2 y, 108 male and 72 female) who underwent 1-stage palatoplasty. Dental models were evaluated by 3 experienced orthodontists applying Goslon Yardstick and the 5-year-old index (FYOI). The influence of the palatoplasty technique and surgeon factor on the interarch relationship was evaluated. The weighted Kappa was used to assess intraexaminer and interexaminer agreements for comparisons of dental arch relationships. Intergroup comparisons were conducted using the χ 2 test ( P <0.05). RESULTS: The intraexaminer reliability was very good (0.81 to 0.98) and interexaminer reliability varied from satisfactory to very good (0.56 to 0.83). The mean occlusal index of the 2-stage and 1-stage groups was 2.77 and 3.03, respectively. The variability of the mean index between surgeons varied from 2.38 to 3.2 in the 2-stage group and 2.91 to 3.2 in the 1-stage group. There were significant differences in the frequency of Goslon 5 index ( P =0.002) between groups, with the 2-stage group presenting less cases (1.18%) than the group 1-stage (11.11%). CONCLUSION: The interarch relationship was similar for both palate repair protocols. Two-stage palatoplasty showed a decreased prevalence of Goslon index 5.

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

OBJECTIVE: To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. DESIGN: The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. STUDY SETTING: The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up. PATIENTS: The patients were selected out of the series of craniofacial deformities taken care of by the authors' department as rare clefts. MAIN OUTCOME: We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a "maxillary duplication"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus. CONCLUSIONS: The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.

Evaluation of Radiographic Outcomes of Alveolar Graft Associated with Premaxillary Osteotomy Performed with rhBMP-2.

OBJECTIVE: To evaluate the influence of filling material and timing of surgery on radiograph outcomes of alveolar grafting with premaxillary osteotomy. The null hypothesis was that radiographic outcomes would be similar with both rhBMP-2 (rhBMP-2G) and cancellous bone from the iliac crest (IG), regardless of the timing of surgery. DESIGN: Cross-sectional study with consecutive sampling of 56 periapical or occlusal radiographs taken 12 months after surgery. SETTING: A single tertiary craniofacial center. PATIENTS/PARTICIPANTS: Twenty-eight patients with complete bilateral cleft lip and palate and mean age of 13 years. The individuals underwent bilateral alveolar grafting associated with premaxillary osteotomy (AG + PO) with rhBMP-2 or cancellous bone from the iliac crest. INTERVENTIONS: Experienced maxillofacial surgeons used the same surgical technique in both groups. AG + PO were assigned as success or failure by 3 blinded raters based on modified Bergland and SWAG scales. MAIN OUTCOME MEASURES: The influence of filling materials and timing of surgery on radiographic outcomes was verified by Fisher's exact test and chi-square test (P < .05). RESULTS: There was no significance variation between the mean age of participants in the rhBMP-2G and IG (P = .471). Scales showed almost perfect reliability (agreement rate = 96.4%; K = 0.85). rhBMP-2G and IG had similar success rates with modified Bergland scale (85.7% and 82.1%) and SWAG scale (92.9% and 82.1%), respectively. However, only modified Bergland scale found influence of age on radiographic outcomes (P = .025). CONCLUSIONS: AG + PO performed with rhBMP-2 and iliac crest bone showed similar radiographic success rates, regardless of the timing of surgery.

The First Hybrid International Educational Comprehensive Cleft Care Workshop.

OBJECTIVE: Describe the first hybrid global simulation-based comprehensive cleft care workshop, evaluate impact on participants, and compare experiences based on in-person versus virtual attendance. DESIGN: Cross-sectional survey-based evaluation. SETTING: International comprehensive cleft care workshop. PARTICIPANTS: Total of 489 participants. INTERVENTIONS: Three-day simulation-based hybrid comprehensive cleft care workshop. MAIN OUTCOME MEASURES: Participant demographic data, perceived barriers and interventions needed for global comprehensive cleft care delivery, participant workshop satisfaction, and perceived short-term impact on practice stratified by in-person versus virtual attendance. RESULTS: The workshop included 489 participants from 5 continents. The response rate was 39.9%. Participants perceived financial factors (30.3%) the most significant barrier and improvement in training (39.8%) as the most important intervention to overcome barriers facing cleft care delivery in low to middle-income countries. All participants reported a high level of satisfaction with the workshop and a strong positive perceived short-term impact on their practice. Importantly, while this was true for both in-person and virtual attendees, in-person attendees reported a significantly higher satisfaction with the workshop (28.63 ± 3.08 vs 27.63 ± 3.93; P = .04) and perceived impact on their clinical practice (22.37 ± 3.42 vs 21.02 ± 3.45 P = .01). CONCLUSION: Hybrid simulation-based educational comprehensive cleft care workshops are overall well received by participants and have a positive perceived impact on their clinical practices. In-person attendance is associated with significantly higher satisfaction and perceived impact on practice. Considering that financial and health constraints may limit live meeting attendance, future efforts will focus on making in-person and virtual attendance more comparable.

Evolution of Gender Disparities Among Brazilian Surgical, Anesthesia, and Obstetric Providers.

INTRODUCTION: Since 2010, most graduating physicians in Brazil have been female, nevertheless gender disparities among surgical specialties still exist. This study aims to explore whether the increase in female physicians has translated to increased female representation among surgical specialties in Brazil. METHODS: Data on gender, years of practice, and specialty was extracted from Demografia Médica do Brasil, from 2015 to 2020. The percentage of women across 18 surgical, anesthesia, and obstetric (SAO) specialties and the relative increases in female representation during the study period were calculated. RESULTS: Of the 18 SAO specialties studied, 16 (88%) were predominantly male (>50%). Only obstetrics/gynecology and breast surgery showed a female predominance, with 58% and 52%, respectively. Urology, neurosurgery, and orthopedic surgery and traumatology were the three specialties with the largest presence of men - and the lowest absolute growth in the female workforce from 2015 to 2020. CONCLUSIONS: In Brazil, where significant gender disparities persist, women are still underrepresented in surgical specialties. Female presence is predominant in surgical specialties dedicated to the care of female patients, while it remains poor in those with male patient dominance. Over the last 5 y, the proportion of women working in SAO specialties has grown, but not as much as in nonsurgical specialties. Future studies should focus on investigating the causes of gender disparities in Brazil to understand and tackle the barriers to pursuing surgical specialties.

Assessing Brazilian Medical Student Awareness About Global Surgery: A Survey-Based Study.

BACKGROUND: Global surgery is an interdisciplinary field that advocates for access to equitable, affordable surgical services for all people. Engaging medical students in the field can strengthen the surgical workforce in low- and middle-income countries. We aim to investigate Brazilian medical students' acknowledgment of global surgery and their preferred learning platforms. MATERIALS AND METHODS: We performed a cross-sectional study through an anonymous Portuguese survey on Google Forms, consisting of 30 mixed multiple-choice and five-point Likert scale questions. Students enrolled in a Brazilian medical school from the second to sixth academic year fulfilled inclusion criteria. The association between qualitative variables was assessed using Chi-square, Fisher's exact test, or binary logistic model. RESULTS: We received 1,345 responses from 208 medical schools. Only 20.9% (282/1,345) of participants reported awareness of global surgery, who were predominantly female. 96.5% (1,298/1,345) declared interest in knowing more about global surgery and participants indicated social media (71.6%, 202/282) as the prevalent manner to gain awareness on it, followed by webinars (63.5%, 179/282). Extracurricular classes were the most preferable option among students (61.4%, 827/1,345) to get acquainted with the field, followed by internships (59.4%, 812/1,345), workshops (57%, 767/1,345), and social media (53.4%, 730/1,345). The main obstacles to pursue a global surgery career were lack of national opportunities (32%, 431/1,345) and adequate training (25.4%, 341/1,345). CONCLUSION: We outlined the most strategic pathways to raising awareness on global surgery among Brazilian medical students, providing relevant insights on its education in similar settings.

Crouzon Syndrome Anatomy, Usefulness of Vestibular Orientation.

ABSTRACT: Spatial resolution of computerized tomographic scanner has reached a level to which accurate anatomic measurements could be done in. Three-dimensional accurate measurements require a reliable referential system. In craniology landmarks are usually selected in the skull base. For craniofacial malformation the classical landmarks are of no help so the authors have used the vestibular orientation to study a series of 50 Crouzon syndrome computerized tomographic scan and compare the results (shape, position, linear mensuration, volumes…) with 122 controls in unaffected patients. The authors have confirmed Crouzon description of a high level of polymorphism in phenotypes, the authors propose an organigram to understand the abnormal growth patterns in crouzon syndrome, which lead to such consequences. This polymorphism implies that the planning of surgical treatment should be tailored for each case.

Treatment of Cleft Lip and Palate in the Amazon Region in Brazil: Speech Results and Sociodemographic Aspects.

OBJECTIVE: To investigate the speech outcomes in individuals with cleft lip and palate (CLP) from the Amazon region and determine their correlation with sociodemographic factors. DESIGN: Cross-sectional, prospective, single-blind study. SETTING: Tertiary care institute in Manaus, Amazonas, Brazil. PATIENTS: Four hundred twenty individuals with CLP, aged 4 to 57 years. MAIN OUTCOME MEASURES: The samples were judged by 3 speech pathologists experienced in the speech assessment of individuals with CLP. Hypernasality was scored using a 4-point scale, being 1 = absent, 2 = mild, 3 = moderate, and 4 = severe, and the active speech symptoms were classified as absent or present. The final score for each speech symptom was reached by consensus among the 3 examiners Descriptive analysis of sociodemographic data included origin, socioeconomic status, type of cleft, surgical technique employed, the age they underwent primary and secondary palatoplasty, and palatal fistula. RESULTS: Absence of hypernasality was observed in 41% of the individuals, 18% had mild, 28% moderate, and 13% severe hypernasality. Active speech symptoms were observed in 57% of the individuals. Significant correlations were found between speech outcomes and the variables such as origin, socioeconomic status, age at primary and secondary palatoplasty, and presence of fistula. CONCLUSIONS: Most individuals with repaired CLP from the Amazon region presented speech disorders, characterized by hypernasality and active errors. Patients living outside the state capital, of low socioeconomic level, underwent palatoplasty late and with presence of palatal fistula tended to have the worst speech outcomes.

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

INTRODUCTION: Craniofacial clefts are rare congenital anomalies that might involve both soft tissue and skeletal components. The association of Tessier cleft number 3 and 4 with choanal atresia appears to be unusual and only few clinical cases have been reported in published literature. OBJECTIVES: Report a series of 13 cases of choanal atresia in patients with Tessier numbers 3 or 4 clefts and the literature review on this topic. METHODS: A literature review was undertaken via PUBMED database before April 2020 addressing the association between Tessier numbers 3 or 4 clefts and choanal atresia. Retrospective chart review of patients diagnosed with both comorbidities at a tertiary hospital expertised in craniofacial anomalies. RESULTS: Literature review yielded 10 studies describing the relationship between choanal atresia and Tessier 3 and 4 facial clefts. We identified 98 patients diagnosed with medial oro-ocular facial clefts (Tessier 3 and 4) and 119 with choanal atresia at our institution over a 20 years time period. Altogether, 13 individuals were diagnosed with both malformations, 3 patients with number 3 cleft, and 10 patients with number 4 cleft. It represents 13.26% of the cases. CONCLUSION: This study highlights the features of Tessier 3 and 4 facial clefts associated with choanal atresia. Although the publications regarding this association are very scarce, the authors present the largest series of cases of Tessier number 3 and 4 clefts with choanal atresia showing that association between these conditions could be not so unusual.

Sinus pericranii-unusual anatomic obstacle to posterior decompression on an amniotic band sequence.

Abnormal venous drainage in patients with craniofacial anomalies is relativity uncommon. Sinus pericranii is a rare vascular malformation characterized by communication between intracranial dural sinuses and extracranial venous drainage systems. The association between sinus pericranii and amniotic band syndrome has not been described. We report on a 7-month-old girl diagnosed with amniotic band sequence who underwent posterior fossa decompression due to intracranial hypertension and Chiari malformation type I. The computed tomography and magnetic resonance identified the connection between the sagittal sinus and the scalp. During the operation, the presence of sinus pericranii was a complicating factor limiting the proper exposure because of the risk of bleeding. Patients with craniofacial anomalies and sinus pericranii present an increased risk of serious surgical complications and consequences from craniofacial surgery, especially from cranioplasty and posterior decompression. Special attention must be paid to abnormal venous drainage, and vascular imaging studies are sometimes required.