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Birk-Barel intellectual disability dimorphism syndrome, also referred to as KCNK9 imprinting syndrome, is an exceedingly rare condition described in under 20 cases that presents with intellectual disability, hypotonia, scoliosis, dysphonia, dysphagia, and craniofacial dysmorphic features. The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon. Previously described craniofacial dysmorphic features include micrognathia, cleft palate, dolichocephaly, broad nasal tip, and broad philtrum, among others. Here the authors describe a genetically confirmed case that has been managed in our institution's multidisciplinary cleft and craniofacial clinic. The authors aim to discuss Birk-Barel syndrome for a surgical and craniofacial audience with considerations for operative management in the context of a multidisciplinary team.

Giant cell tumors are uncommonly found within the craniofacial skeleton, and of those within the head and neck, are exceedingly rare in the maxilla. Here the authors present 2 cases of large, maxillary giant cell tumors: one presenting with mass-effect symptoms and another presenting from incidental findings on routine orthodontic care. Both patients were treated surgically with transoral and endoscopic transnasal excision and demonstrated favorable surgical results. One patient demonstrated no recurrence after 9 years and the other patient was disease free after 4 years. The authors end by discussing the role of emerging biologic agents, such as denosumab, for treating giant cell tumors of the jaws.

Facial proportionality and symmetry are positively associated with perceived levels of facial attractiveness.The aims of this study were to confirm and extend the association of proportionality with perceived levels of attractiveness and character traits and determine differences in attractiveness and character ratings between "anomalous" and "typical" faces using a large dataset.Ratings of 597 unique individuals from the Chicago Face Database were used. A formula was developed as a proxy of relative horizontal proportionality, where a proportionality score of "0" indicated perfect proportionality and more negative scores indicated less proportionality. Faces were categorized as "anomalous" or "typical" by 2 independent reviewers based on physical features.Across the ratings for all faces, Spearman correlations revealed greater proportionality was associated with attractiveness ( ρ = 0.292, P0.001) and trustworthiness ( ρ = 0.193, P0.001), while lesser proportionality was associated with impressions of anger (ρ = 0.132, P = 0.001), dominance (ρ = 0.259, P0.001), and threateningness ( ρ = 0.234, P0.001). Mann-Whitney U tests revealed the typical cohort had significantly higher levels of proportionality (-13.98 versus -15.14, P = 0.030) and ratings of attractiveness (3.39 versus 2.99, P0.001) and trustworthiness (3.48 versus 3.35, P0.001).This study demonstrated that facial proportionality is not only significantly associated with higher ratings of attractiveness, but also associated with judgements of trustworthiness. Proportionality plays a role in evoking negative attributions of personality characteristics to people with facial anomalies.

There has been a disproportionate increase in the incidence of young patients with squamous cell carcinoma of the oral tongue (SCCOT). The purpose of this study was to compare young patients to older patients with SCCOT without prior drinking or smoking history as this population is poorly characterized in the literature.A retrospective review of patients presenting to our institution with SCCOT was performed. The clinical and pathologic characteristics, as well as, outcomes were compared between younger patients (age ≤45) and older patients (age45). Outcome analysis was performed using Kaplan Meier method. Multivariable Cox proportional hazard models were performed for age and stage.Eighty-two patients (38 young, 44 old) were included in this study. Median follow-up was 29.4 months. When compared to the older cohort (age45), the younger cohort (age ≤45) demonstrated lower rates of 5-year locoregional control (LC) (79.6% vs. 52.5%, p = 0.043) and distant metastasis-free survival (88.1% vs. 61.8%, p = 0.006). Both cohorts demonstrated similar overall survival rates (55.5% vs. 58.1%) and disease-specific survival (66.2% vs. 58.1%). Of patients experiencing locoregional failure with available radiation therapy plans and PET scans in younger cohorts (n = 7), 100% demonstrated in-field failures. Multivariable Cox proportional hazards demonstrated age was an independent predictor of DMFS (p = 0.004) and the advanced stage was a predictor of DSS (p = 0.03).Young, nondrinker, nonsmokers with SCCOT demonstrate high rates of locoregional recurrence, distant metastasis, and in-field failures. Future studies are warranted to determine underlying mechanisms driving pathogenesis in this unique cohort.3 Laryngoscope, 2022.

To determine the clinical outcomes of adult patients with single-sided deafness (SSD) undergoing ipsilateral cochlear implantation.An electronic search of Medline and Embase articles.A systematic review was performed with a search strategy developed by a licensed librarian to identify studies of adult patients with SSD who underwent ipsilateral cochlear implantation. Articles were managed in Covidence and evaluated by 2 independent reviewers. Risk of bias was assessed and data were extracted, including patient demographics, etiology of deafness, duration of deafness, and postoperative change in speech recognition, tinnitus, sound localization, and quality of life (QoL). A meta-analysis was performed, and pooled mean differences were calculated for each outcome of interest via random effects models by each outcome, as well as subgroup analyses by the individual clinical score used.Of 2309 studies identified, 185 full texts were evaluated, and 50 were ultimately included involving 674 patients. Speech perception scores in quiet and noise, tinnitus control, sound localization, and QoL all significantly improved after implantation. Pooled outcomes demonstrated score improvements in speech perception (standardized mean difference [SMD], 2.8 [95% CI, 2.16-3.43]), QoL (SMD, 0.68 [95% CI, 0.45-0.91]), sound localization (SMD, -1.13 [95% CI, -1.68 to -0.57]), and tinnitus score reduction (SMD, -1.32 [95% CI, -1.85 to -0.80]).Cochlear implantation in adults with SSD results in significant improvements in speech perception, tinnitus control, sound localization, and QoL.Level of evidence: 2.

Cleft and craniofacial conditions often present with a variety of functional and esthetic sequelae optimally treated by a multidisciplinary approach. Diagnosis of such conditions pre- or postnatally may evoke parental uncertainty and anxiety, and an important primary consideration is the selection of a cleft and craniofacial team. Identifying an optimal team may be particularly important for developing long-term relationships with clinicians who will ideally work intimately with the family from diagnosis to adulthood. While families, parents, and providers should consider several factors, a dearth of evidence-based suggestions preclude critical appraisal of cleft and craniofacial teams. In this article, the authors summarize medical, surgical, and social considerations for selecting a cleft and craniofacial team to optimize patient outcomes and the family/caregiver experience.

OBJECTIVE To demonstrate non-inferiority of endoscopic stapedotomy to microscopic stapedotomy for the treatment of otosclerosis. STUDY DESIGN Single-blinded randomized control trial. SETTING Tertiary, academic otology-neurotology practice. PATIENTS Adult subjects with a diagnosis of otosclerosis and a preoperative air-bone gap (ABG) more than or equal to 20 dB undergoing primary stapedotomy. INTERVENTION Endoscopic or microscopic stapedotomy. MAIN OUTCOME MEASURES Primary audiometric outcome was postoperative ABG. Secondary audiometric outcomes included speech reception threshold (SRT), word recognition score (WRS), bone- and air-conduction pure tone averages (PTA), change in ABG, and ABG closure rates to less than or equal to 10 dB and less than or equal to 20 dB. RESULTS Twenty-two patients were recruited. Eleven patients underwent endoscopic stapedotomy and 11 underwent microscopic stapedotomy. The endoscopic group was non-inferior to the microscopic group in terms of postoperative audiometric outcomes (endoscope versus microscope, p-value): ABG (8.1 dB versus 8.1 dB

Breast cancer is the most common cancer affecting women in United States with a significant patient and familial financial burden. Limited resources offer financial support to patients in the form of cost support for bills, health insurance payments, childcare, and post-treatment recovery. Financial resources are often limited to patients of certain geographic regions or low socioeconomic status as determined by the federal poverty level, which may systematically exclude patients in need.

Age-related hearing loss is a very common sensory disability, affecting one in three older adults. Establishing a link between anatomical, physiological, and behavioral markers of presbycusis in a mouse model can improve the understanding of this disorder in humans. We measured age-related hearing loss for a variety of acoustic signals in quiet and noisy environments using an operant conditioning procedure and investigated the status of peripheral structures in CBA/CaJ mice. Mice showed the greatest degree of hearing loss in the last third of their lifespan, with higher thresholds in noisy than in quiet conditions. Changes in auditory brainstem response thresholds and waveform morphology preceded behavioral hearing loss onset. Loss of hair cells, auditory nerve fibers, and signs of stria vascularis degeneration were observed in old mice. The present work underscores the difficulty in ascribing the primary cause of age-related hearing loss to any particular type of cellular degeneration. Revealing these complex structure-function relationships is critical for establishing successful intervention strategies to restore hearing or prevent presbycusis.

Severe congenital mandibular hypoplasia may cause significant upper airway obstruction, often necessitating immediate tracheostomy. Recent surgical advances have demonstrated early intervention with mandibular distraction osteogenesis over tracheostomy may yield desirable aesthetic and functional outcomes. Here we present a case of bilateral mandibular hypoplasia, severe on the right and mild on the left, secondary to Goldenhar syndrome yielding significant tongue-based upper airway obstruction that was surgically corrected with mandibular bone allograft reconstruction of the right condyle, ramus, and posterior half of the mandibular body. Postoperative polysomnography revealed significantly improved obstructive apnea and computed tomography demonstrated adequate placement of the bone allograft to overcorrect the affected hemi-mandible. To the authors' knowledge, this is the first report of immediate mandibular allografting alleviating tongue-based upper airway obstruction secondary to mandibular hypoplasia in an infant. Mandibular bone allografting may be a favorable alternative to immediate tracheostomy with delayed surgical intervention, though long-term follow up is needed to assess graft durability and maintenance of airway patency.

There have been few longitudinal studies assessing the effect of preoperative phenotypic severity on long-term esthetic outcomes in metopic craniosynostosis. This study evaluates the relationship between metopic severity and long-term esthetic outcomes using interfrontal angle (IFA) and CranioRate, a novel metopic synostosis severity measure.Patients with metopic craniosynostosis who underwent bifrontal orbital advancement and remodeling between 2012 and 2017 were reviewed. Preoperative computed tomography head scans were analyzed for IFA and CranioRate, a machine learning algorithm which generates quantitative severity ratings including metopic severity score (MSS) and cranial morphology deviation (CMD). Long-term esthetic outcomes were assessed by craniofacial surgeons using blinded 3-rater esthetic grading of clinical photos. Raters assessed Whitaker score and the presence of temporal hollowing, lateral orbital retrusion, frontal bone irregularities and/or "any visible irregularities."Preoperative scans were performed at a mean age of 7.7±3.4 months, with average MSS of 6/10, CMD of 200/300, and IFA of 116.8±13.8 degrees. Patients underwent bifrontal orbital advancement and remodeling at mean 9.9±3.1 months. The average time from operation to esthetic assessment was 5.4±1.0 years. Pearson correlation revealed a significant negative correlation between MSS and age at computed tomography (r=-0.451, P=0.004) and IFA (r=-0.371, P=0.034) and between IFA and age at surgery (r=-0.383, P=0.018). In multinomial logistic regression, preoperative MSS was the only independent predictor of visible irregularities (odds ratio=2.18, B=0.780, P=0.024) and preoperative IFA alone significantly predicted Whitaker score, with more acute IFA predicting worse Whitaker score (odds ratio=0.928, B=-0.074, P=0.928).More severe preoperative phenotypes of metopic craniosynostosis were associated with worse esthetic dysmorphology. Objective measures of preoperative metopic severity predicted long-term esthetic outcomes.

Sagittal craniosynostosis may present with complete or partial fusion of the sagittal suture, but relationships between degree of sagittal suture fusion and head shape are currently poorly described. The aim of this study was to characterize sagittal suture fusion patterns and determine associations with head shape in a cohort of patients with nonsyndromic sagittal craniosynostosis.Patients with nonsyndromic sagittal craniosynostosis at a tertiary care center with available computed tomography imaging were included in this study. The anterior and posterior distances of sagittal suture patency were measured along 3-dimensional parietal bones. Degree of sagittal suture fusion was compared to head shape characteristics, including cephalic index (CI), frontal bossing, and occipital bulleting.Ninety patients (69 male) were included in this retrospective study. The sagittal suture was on average 85.6±20.1% fused, and 45 (50.0%) patients demonstrated complete fusion of the sagittal suture. CI was associated with increased degree of fusion for the anterior one-half (ρ=0.26, P =0.033) and anterior one-third (ρ=0.30, P =0.012) of the sagittal suture. Complete fusion of the anterior one-third of the sagittal suture predicted higher CI (β=13.86, SE=6.99, z =-0.25, P =0.047). Total degree of sagittal suture fusion was not predictive of CI or head shape in any analysis.Decreased fusion of the anterior one-third of the sagittal suture, but not total suture, may paradoxically predict increased severity of scaphocephaly as quantified by CI in nonsyndromic sagittal craniosynostosis.

Vision loss following surgery for pituitary adenoma is poorly described in the literature and cannot be reliably predicted with current prognostic models. Detailed characterization of this population is warranted to further understand the factors that predispose a minority of patients to post-operative vision loss.The medical records of 587 patients who underwent endoscopic transsphenoidal surgery at the Mount Sinai Medical Centre between January 2013 and August 2018 were reviewed. Patients who experienced post-operative vision deterioration, defined by reduced visual acuity, worsened VFDs, or new onset of blurry vision, were identified and analysed.Eleven out of 587 patients who received endoscopic surgery for pituitary adenoma exhibited post-operative vision deterioration. All eleven patients presented with preoperative visual impairment (average duration of 13.1 months) and pre-operative optic chiasm compression. Seven patients experienced visual deterioration within 24 h of surgery. The remaining four patients experienced delayed vision loss within one month of surgery. Six patients had complete blindness in at least one eye, one patient had complete bilateral blindness. Four patients had reduced visual acuity compared with preoperative testing, and four patients reported new-onset blurriness that was not present before surgery. High rates of graft placement (10/11 patients) and opening of the diaphragma sellae (9/11 patients) were found in this series. Four patients had hematomas and four patients had another significant post-operative complication.While most patients with pituitary adenoma experience favourable ophthalmological outcomes following endoscopic transsphenoidal surgery, a subset of patients exhibit post-operative vision deterioration. The present study reports surgical and disease features of this population to further our understanding of factors that may underlie vision loss following pituitary adenoma surgery. Graft placement and opening of the diaphragma sellae may be important risk factors in vision loss following ETS and should be an area of future investigation.

OBJECTIVEVision loss remains a debilitating complication of pituitary adenomas, although there is considerable variability in visual impairment before and after decompression surgery. Growing evidence suggests secondary damage to remote visual structures may contribute to vision loss in patients with chiasmatic compression. The present study leverages ultrahigh field 7-T MRI to study the retinotopic organization of the primary visual cortex (V1), and correlates visual defects with cortical thinning in V1 to characterize consequences of pituitary adenomas on the posterior visual system.METHODSEight patients (4 males and 4 females, mean age 44.3 years) with pituitary adenomas who exhibited chiasmatic compression and visual field defects, as well as 8 matched healthy controls (4 males and 4 females, mean age 43.3 years), were scanned at 7-T MRI for this prospective study. Whole-brain cortical thickness was calculated using an automated algorithm. A previously published surface-based algorithm was applied to associate the eccentricity and polar angle with each position in V1. Cortical thickness was calculated at each point in the retinotopic organization, and a cortical thickness ratio was generated against matched controls for each point in the visual fields. Patients with adenoma additionally underwent neuroophthalmological examination including 24–2 Humphrey automated visual field perimetry. Pattern deviation (PD) of each point in the visual field, i.e., the deviation in point detection compared with neurologically healthy controls, was correlated with cortical thickness at corresponding polar and eccentricity angles in V1.RESULTSWhole-brain cortical thickness was successfully derived for all patients and controls. The mean tumor volume was 19.4 cm3. The median global thickness of V1 did not differ between patients (mean ± SD 2.21 ± 0.12 cm), compared with controls (2.06 ± 0.13 cm, p > 0.05). Surface morphometry–based retinotopic maps revealed that all 8 patients with adenoma showed a significant positive correlation between PD and V1 thickness ratios (r values ranged from 0.31 to 0.53, p < 0.05). Mixed-procedure analysis revealed that PD = −8.0719 + 5.5873*[Median V1 Thickness Ratio].CONCLUSIONSAll 8 patients showed significant positive correlations between V1 thickness and visual defect. These findings provide retinotopic maps of localized V1 cortical neurodegeneration spatially corresponding to impairments in the visual field. These results further characterize changes in the posterior visual pathway associated with chiasmatic compression, and may prove useful in the neuroophthalmological workup for patients with pituitary macroadenoma.

Both congenital cystic adenomatoid malformation (CCAM) and lambdoid craniosynostosis are exceedingly rare, with estimated incidences of around 1 in 30,000 live births for each. Herein, we present a case of a patient with prenatally diagnosed CCAM requiring 4 doses of prenatal steroids and ultimately thoracotomy with right lower lobectomy. The operation was uncomplicated, and genome-wide analysis of SNPs revealed no pathologic abnormalities. Development was normal until head shape changes were noted at 5 months of age at which point evaluation by a craniofacial surgeon and 3D CT imaging revealed left-sided lambdoid craniosynostosis. The patient underwent uncomplicated posterior and middle vault expansion and remodeling of his lambdoid synostosis at 11 months of age. This paper explores the etiopathogenesis of CCAM and lambdoid craniosynostosis in an attempt to identify common pathways involved in the development of these exceedingly rare diseases which, to date, have not been described in the peer-reviewed literature.

Objective Determine interactions between geospatial and socioeconomic factors influencing cleft lip and/or cleft palate (CL/P) management and outcomes. Design Retrospective review and outcomes analysis (n = 740). Setting Urban academic tertiary care center. Patients 740 patients undergoing primary (CL/P) surgery from 2009 to 2019. Main Outcomes Measures Prenatal evaluation by plastic surgery, nasoalveolar molding, cleft lip adhesion, and age at CL/P surgery. Results Prenatal evaluation by plastic surgery was predicted by the interaction between higher patient median block group income and shorter patient distance from the care center (OR = 1.07, p = 0.022). Nasoalveolar molding was also predicted by the interaction between higher patient median block group income and shorter distance from the care center (OR = 1.28, p = 0.016), whereas cleft lip adhesion was predicted by higher patient median block group income alone (OR = 0.41, p Conclusions Distance from the care center and lower median income by block group interacted to significantly predict prenatal evaluation by plastic surgery and nasoalveolar molding for patients with CL/P at a large, urban, tertiary care center. Patients living farthest from the care center who received prenatal evaluation by plastic surgery or who underwent nasoalveolar molding had higher median block group income. Future work will determine mechanisms perpetuating these barriers to care.

Objective Approximately 30% of patients with a history of repaired cleft palate (CP) go on to suffer from velopharyngeal dysfunction (VPD). This study discusses the operative management of VPD and postoperative speech outcomes in a cohort of CP patients. Setting An academic tertiary pediatric care center. Methods Retrospective cohort study. Patients Patients with history of repaired CP (Veau I-IV) who underwent operative management of VPD between January 1st, 2010 and December 31st, 2020. Operative modalities were posterior pharyngeal flap (PPF), sphincter pharyngoplasty (SPP), Furlow palate re-repair, and buccal myomucosal flap palate lengthening (PL). Outcome measures The primary outcome measure is postoperative speech improvement evaluated by the Pittsburgh Weighted Speech Scale (PWSS). Results 97 patients met inclusion criteria. 38 patients with previous straight-line primary palatoplasty underwent Furlow re-repair; these patients were significantly younger (7.62 vs 11.14, P Conclusion Furlow re-repair reduced need for additional VPD operations. Speech outcomes between non-revisional operations are comparable, but increased complications were seen in SPP.

A subset of patients with metopic craniosynostosis are noted to have elevated intracranial pressure (ICP). However, it is not known if the propensity for elevated ICP is influenced by the severity of metopic cranial dysmorphology.Children with nonsyndromic single-suture metopic synostosis were prospectively enrolled and underwent optical coherence tomography to measure optic nerve head morphology. Preoperative head computed tomography scans were assessed for endocranial bifrontal angle as well as scaled metopic synostosis severity score (MSS) and cranial morphology deviation score determined by CranioRate, an automated severity classifier.Forty-seven subjects were enrolled between 2014 and 2019, at an average age of 8.5 months at preoperative computed tomography and 11.8 months at index procedure. Fourteen patients (29.7%) had elevated optical coherence tomography parameters suggestive of elevated ICP at the time of surgery. Ten patients (21.3%) had been diagnosed with developmental delay, eight of whom demonstrated elevated ICP. There were no significant associations between measures of metopic severity and ICP. Metopic synostosis severity score and endocranial bifrontal angle were inversely correlated, as expected ( r =-0.545, P0.001). A negative correlation was noted between MSS and formally diagnosed developmental delay ( r =-0.387, P =0.008). Likewise, negative correlations between age at procedure and both MSS and cranial morphology deviation was observed ( r =-0.573, P0.001 and r =-0.312, P =0.025, respectively).Increased metopic severity was not associated with elevated ICP at the time of surgery. Patients who underwent later surgical correction showed milder phenotypic dysmorphology with an increased incidence of developmental delay.