RESUMEN
Meningiomas are the most common neoplasms of the central nervous system, accounting for approximately 40% of all brain tumors. Surgical resection represents the mainstay of management for symptomatic lesions. Preoperative planning is largely informed by neuroimaging, which allows for evaluation of anatomy, degree of parenchymal invasion, and extent of peritumoral edema. Recent advances in imaging technology have expanded the purview of neuroradiologists, who play an increasingly important role in meningioma diagnosis and management. Tumor vascularity can now be determined using arterial spin labeling and dynamic susceptibility contrast-enhanced sequences, allowing the neurosurgeon or neurointerventionalist to assess patient candidacy for preoperative embolization. Meningioma consistency can be inferred based on signal intensity; emerging machine learning technologies may soon allow radiologists to predict consistency long before the patient enters the operating room. Perfusion imaging coupled with magnetic resonance spectroscopy can be used to distinguish meningiomas from malignant meningioma mimics. In this comprehensive review, we describe key features of meningiomas that can be established through neuroimaging, including size, location, vascularity, consistency, and, in some cases, histologic grade. We also summarize the role of advanced imaging techniques, including magnetic resonance perfusion and spectroscopy, for the preoperative evaluation of meningiomas. In addition, we describe the potential impact of emerging technologies, such as artificial intelligence and machine learning, on meningioma diagnosis and management. A strong foundation of knowledge in the latest meningioma imaging techniques will allow the neuroradiologist to help optimize preoperative planning and improve patient outcomes.
RESUMEN
BACKGROUND: For patients with oral cavity squamous cell carcinoma (OCSCC) without evidence of nodal metastasis (cN0) on pre-operative evaluation, there are no clear guidelines who should undergo elective neck dissection (END) versus clinical surveillance. OBJECTIVE: To identify CT imaging characteristics of sub-centimeter lymph nodes that would help predict the likelihood of nodal metastases on pathology. METHODS: Retrospective review of cN0 OCSCC patients at a tertiary academic medical center was performed. Inclusion criteria included elective neck dissection, pre-operative CT imaging and presence of metastatic disease within lymph nodes. Control group consisted of patients without nodal metastases on pathology. CT features that were evaluated included asymmetric size, disrupted fatty hilum, asymmetric number, presence of cortical nodule, cortical nodule size, and round/oval shape. We evaluated the associations between CT LN features and the presence of metastases using multi-level mixed-effects logistic regression models. Model evaluation was performed using 5-fold cross-validation. The positive predictive value (PPV) and negative predictive value (NPV) were calculated. RESULTS: 26 patients in each study and control groups were included. Three-level mixed-effects logistic regression models indicated round/oval shape (OR = 1.39, p = .01), asymmetric number (OR = 7.20, p = .005), and disrupted fatty hilum (OR = 3.31, p = .04) to be independently predictive in a 3-variable model with sensitivity = 38.0%, specificity = 92.0%, and PPV = 93.8%. CONCLUSIONS: In cN0 OCSCC patients undergoing END, round/oval shape, asymmetric number, and disrupted fatty hilum of lymph nodes on pre-operative CT imaging are novel and highly predictive of occult nodal disease.
Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello , Metástasis Linfática/diagnóstico por imagen , Estudios de Casos y Controles , Estadificación de Neoplasias , Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/secundario , Neoplasias de la Boca/diagnóstico por imagen , Neoplasias de la Boca/patología , Neoplasias de la Boca/cirugía , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodosRESUMEN
Neuroimaging plays a pivotal role in the diagnosis, management, and prognostication of brain tumors. Recently, the World Health Organization published the fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS5), which places greater emphasis on tumor genetics and molecular markers to complement the existing histological and immunohistochemical approaches. Recent advances in computational power allowed modern neuro-oncological imaging to move from a strictly morphology-based discipline to advanced neuroimaging techniques with quantifiable tissue characteristics such as tumor cellularity, microstructural organization, hemodynamic, functional, and metabolic features, providing more precise tumor diagnosis and management. The aim of this review is to highlight the key imaging features of the recently published CNS5, outlining the current imaging standards and summarizing the latest advances in neuro-oncological imaging techniques and their role in complementing traditional brain tumor imaging and management.
Asunto(s)
Neoplasias Encefálicas , Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/terapia , Neuroimagen/métodos , EncéfaloRESUMEN
PURPOSE: Medical errors result in significant mortality and morbidity. The purpose of this study is to analyze skull-base errors at a single tertiary institution, identify common anatomic sites of errors, and offer strategies to reduce errors in this region. METHODS: A Neuroradiology Quality Assurance Database of radiologic errors was searched for attending physician computer tomography and magnetic resonance imaging errors in skull-base pathology from 2014 to 2020. Data were limited to CT and MRI reports. Errors were separated into four subcategories (tumor, trauma, vascular, and congenital) and further divided by relevant anatomic site. RESULTS: A total of 90 skull-based errors were identified. Most errors were perceptual (87%), with common study types including MRI Brain (39%) and CT Head (24%). Most common errors were tumors (55%), followed by trauma (24%), vascular (10%), and congenital (7%). Six anatomic sites were identified and encompassed over half of errors (58%): sella, occipital bone, cerebellopontine angle/internal auditory canal (CPA/IAC), foramen magnum and clivus, cavernous sinus, and dural venous sinus. SUMMARY: Most of the skull-base errors were perceptual. Placing a strong emphasis on both the pathology and closely examining its critical anatomic site (sella, occipital bone, CPA/IAC, foramen magnum and clivus, cavernous sinus, and dural venous sinus) could potentially reduce up to 60% of errors in these regions.
RESUMEN
OBJECTIVE: Our review aims to summarize the current literature on skull base infections (SBIs) and retrospectively analyze any such cases encountered at our institution. DESIGN: A literature search was conducted using online databases PubMed, MEDLINE, and ResearchGate with the terms "skull base osteomyelitis," "temporal bone osteomyelitis," "skull base infections," "necrotizing otitis media," and "SBO". References from the resulting manuscripts were reviewed for relevant articles. A search of our electronic health records using the same key terms was also performed to identify patients with a tissue biopsy-confirmed diagnosis of skull base infections. Patients with an indeterminate diagnosis or inaccessible/poor imaging were excluded. SETTING: A level one trauma and major tertiary academic medical center. PARTICIPANTS: All patients treated at the University of California Davis Health System with a confirmed diagnosis of skull base infections from January 2005 to November 2020. MAIN OUTCOME MEASURES: Imaging results, symptoms, treatment, morbidity, and mortality. RESULTS: Our literature search yielded 59 articles ranging from 1982 to 2021. A retrospective search of our electronic health records identified two cases of skull base infections. CONCLUSION: Skull base infections have no pathognomonic findings. A multimodal approach with computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine is necessary to characterize the disease process in addition to a biopsy for definitive diagnosis. Other diagnoses can mimic SBI on imaging, such as nasopharyngeal carcinoma and inflammatory pseudotumor. Culture-guided antimicrobial treatment and surgery are mainstay therapies. Other adjuvant strategies currently lack the robust evidence necessary to characterize their risks and benefits.
RESUMEN
PURPOSE: Evaluate the frequency of benign versus malignant masses within the prestyloid parapharyngeal space (PPS) and determine if tumor margins on preoperative cross-sectional imaging can predict malignancy status. MATERIALS AND METHODS: The electronic health record at UC Davis Medical Center was searched for PPS masses surgically resected between 2015 and 2021. Cases located centrally within the prestyloid PPS with confirmed histologic diagnosis were included and separated into either benign or malignant groups. Margins of the tumors were categorized as "well defined" or "infiltrative" on preoperative cross-sectional imaging. Statistical analysis was performed to evaluate relationships between malignancy status and tumor margins. RESULTS: A total of 31 cases met the inclusion criteria. Fourteen separate histologic diagnoses were observed. Benign cases comprised 77% (24/31) and the remaining 23% (7/31) were malignant. Pleomorphic adenoma was the most common overall diagnosis at 48% (15/31). Adenoid cystic carcinoma 6% (2/31) was the most common malignant diagnosis. Well-defined tumor margins were seen in 81% (25/31) of cases. A benign diagnosis was found in 96% (24/25) of the cases with well-defined margins. Infiltrative tumor margins were displayed in 19% (6/31) of cases, all were malignant. The sensitivity and specificity of infiltrative tumor margins for malignancy were 85.7% and 100%, respectively. The negative predictive value of infiltrative margins for malignancy was 96%. CONCLUSION: Infiltrative tumor margins on preoperative imaging demonstrate high specificity and negative predictive value for malignant histology in prestyloid PPS masses. Margins should therefore be considered when determining clinical management for newly diagnosed PPS tumors.
Asunto(s)
Adenoma Pleomórfico , Espacio Parafaríngeo , Humanos , Estudios Retrospectivos , Adenoma Pleomórfico/diagnóstico por imagen , Adenoma Pleomórfico/cirugía , Adenoma Pleomórfico/patología , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos XRESUMEN
Autoimmune disease of the head and neck (H&N) could be primary or secondary to systemic diseases, medications, or malignancies. Immune-mediated diseases of the H&N are not common in daily practice of radiologists; the diagnosis is frequently delayed because of the non-specific initial presentation and lack of familiarity with some of the specific imaging and clinical features. In this review, we aim to provide a practical diagnostic approach based on the specific radiological findings for each disease. We hope that our review will help radiologists expand their understanding of the spectrum of the discussed disease entities, help them narrow the differential diagnosis, and avoid unnecessary tissue biopsy when appropriate based on the specific clinical scenarios.
Asunto(s)
Enfermedades Autoinmunes , Neoplasias de Cabeza y Cuello , Enfermedades Autoinmunes/diagnóstico por imagen , Enfermedades Autoinmunes/patología , Diagnóstico Diferencial , Diagnóstico por Imagen/métodos , Cabeza/diagnóstico por imagen , Cabeza/patología , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/patología , Humanos , Cuello/diagnóstico por imagen , Cuello/patologíaRESUMEN
The sellar, suprasellar, and parasellar space contain a vast array of pathologies, including neoplastic, congenital, vascular, inflammatory, and infectious etiologies. Symptoms, if present, include a combination of headache, eye pain, ophthalmoplegia, visual field deficits, cranial neuropathy, and endocrine manifestations. A special focus is paid to key features on CT and MRI that can help in differentiating different pathologies. While most lesions ultimately require histopathologic evaluation, expert knowledge of skull base anatomy in combination with awareness of key imaging features can be useful in limiting the differential diagnosis and guiding management. Surgical techniques, including endoscopic endonasal and transcranial neurosurgical approaches are described in detail.
Asunto(s)
Neoplasias Hipofisarias , Neoplasias de la Base del Cráneo , Endoscopía/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Procedimientos Neuroquirúrgicos/métodos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/cirugía , Silla Turca/diagnóstico por imagen , Silla Turca/patología , Silla Turca/cirugía , Base del CráneoRESUMEN
Complex anatomy and a wide spectrum of diseases in the head and neck predispose interpretation of neck imaging to cognitive pitfalls and perceptual errors. Extra attention to common blind spots in the neck and familiarity with common interpretive challenges could aid radiologists in preventing these diagnostic errors.
Asunto(s)
Cabeza , Cuello , Errores Diagnósticos , Diagnóstico por Imagen , Humanos , Cuello/diagnóstico por imagen , RadiólogosRESUMEN
There is an extensive spectrum of autoimmune entities that can involve the central nervous system, which has expanded with the emergence of new imaging modalities and several clinicopathologic entities. Clinical presentation is usually non-specific, and imaging has a critical role in the workup of these diseases. Immune-mediated diseases of the brain are not common in daily practice for radiologists and, except for a few of them such as multiple sclerosis, there is a vague understanding about differentiating them from each other based on the radiological findings. In this review, we aim to provide a practical diagnostic approach based on the unique radiological findings for each disease. We hope our diagnostic approach will help radiologists expand their basic understanding of the discussed disease entities and narrow the differential diagnosis in specific clinical scenarios. An understanding of unique imaging features of these disorders, along with laboratory evaluation, may enable clinicians to decrease the need for tissue biopsy.
Asunto(s)
Enfermedades Autoinmunes , Enfermedades Autoinmunes/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Sistema Nervioso Central , Diagnóstico Diferencial , Diagnóstico por Imagen , Humanos , Imagen por Resonancia MagnéticaRESUMEN
Involvement of lymph nodes in patients with head and neck cancers impacts treatment and prognosis. Head and neck lymph nodes are comprised of superficial and deep groups which are interconnected. The deep lymph nodes, predominantly centered along internal jugular veins, are very well-known to radiologists and clinicians. However, superficial lymph nodes that drain lymph from the scalp, face, and neck are much less recognized. Here, we describe the anatomic and imaging features of these superficial lymph nodes on CT, MRI, and PET in oncologic settings.
Asunto(s)
Neoplasias de Cabeza y Cuello/patología , Metástasis Linfática/diagnóstico por imagen , Imagen Multimodal , Anciano , Anciano de 80 o más Años , Cara/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Cuello/diagnóstico por imagenRESUMEN
Very few cases of spontaneous otorrhagia (SO) following nonotolaryngologic surgery have ever been reported in surgical literature and none in radiographic. Of the surgical cases reported, SO occurred in the perioperative period following laparoscopic surgeries in the Trendelenburg position. We report the first case of spontaneous bilateral otorrhagia which presented as bilateral external auditory canal masses following endovascular surgery and open decompressive laparotomy in a 60-year-old male with a prior history of hypertension and smoking. We seek to inform radiologists that SO can present on neck imaging as external auditory canal masses as a complication of nonotolaryngologic surgery away from the imaged field of view.
RESUMEN
OBJECTIVES: To investigate whether the positional release technique (PRT) affects central sensitization in patients with chronic tension-type headache (TTH). DESIGN: Randomized controlled trial with concealed allocation, assessor blinding, and intention-to-treat analysis. SETTING: Two university neurology clinics. PARTICIPANTS: Patients (N=32) with TTH and myofascial trigger points (MTrP) in their cervical muscles. INTERVENTIONS: Patients in the PRT group received 10 treatment sessions for each of their MTrPs over the course of 5 weeks. All participants could use ibuprofen 200 mg for their headaches during the study. MAIN OUTCOME MEASURES: The primary outcome measure was brain metabolite profile. The secondary outcome measures were headache frequency and intensity, McGill score, and pressure pain threshold (PPT), which were evaluated in each participant during 5 weeks with proton magnetic resonance spectroscopy, patients' self-reports, the McGill Pain Questionnaire, and a pressure algometer. RESULTS: Analysis of the data from 26 patients showed that headache frequency (P=.001), headache intensity (P=.002), McGill score (P=.003), and local PPT (P=.003) changed significantly after PRT. The myo-inositol/creatine concentration ratio in the somatosensory cortex (P=.041) decreased significantly in the control group. Furthermore, there were significant differences between groups in headache frequency (P<.001), headache intensity (P<.001), McGill score (P<.001), local PPT (P=.004), distal PPT (P=.041), and glutamate-glutamine/creatine concentration ratio in the thalamus (P=.014). CONCLUSIONS: These findings indicate that PRT did not affect central sensitization in patients with TTH despite the improvement in clinical symptoms.
Asunto(s)
Sensibilización del Sistema Nervioso Central/fisiología , Osteopatía/métodos , Cefalea de Tipo Tensional/terapia , Puntos Disparadores/fisiopatología , Adulto , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Perineural spread (PNS) refers to tumor growth along large nerves, a macroscopic analog of microscopic perineural invasion. This phenomenon most commonly occurs in the head and neck, but its incidence varies with histologic tumor subtype. PNS results from a complex molecular interplay between tumor cells, nerves, and connective stroma. PNS is clinically underdiagnosed despite its impact on patients' prognosis and management. The role of 18F-FDG PET in assessment of PNS in head and neck cancer remains to be explored, in contrast to MRI as the established gold standard. In patients with PNS, 18F-FDG PET shows both abnormality along the course of the involved nerve and muscular changes secondary to denervation. Assessment of PNS on 18F-FDG PET requires knowledge of relevant neural pathways and can be improved by correlation with anatomic imaging, additional processing of images, and review of clinical context.
Asunto(s)
Fluorodesoxiglucosa F18 , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/patología , Imagen por Resonancia Magnética , Nervios Periféricos/patología , Tomografía de Emisión de Positrones , Tomografía Computarizada por Rayos X , Humanos , Invasividad Neoplásica , Nervios Periféricos/diagnóstico por imagenRESUMEN
INTRODUCTION: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly. MATERIALS AND METHODS: The distances between the inner walls of the carotid canal at the lacerum segment were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, isolated bicoronal synostosis (9), and compared to an age-matched control group (30). RESULTS: A significantly smaller mean distance between carotid canal walls was observed in Crouzon (11.1 ± 4.9 mm), Pfeiffer (9.6 ± 5.1 mm), Apert (12.3 ± 4.3 mm), Saethre-Chotzen (14.8 ± 3.0 mm) syndromes, and isolated bicoronal synostosis (14.9 ± 3.7 mm) as compared to the control group (19.7 ± 2.4 mm, P < 0.001, P < 0.001, P < 0.001, P = 0.005, and P = 0.002, respectively). There was no statistically significant difference in intercarotid canal distance among the Apert, Saethre-Chotzen and isolated bicoronal synostosis groups. Overall, the brachycephalic group showed reduced intercarotid canal distance comparing to controls (P < 0.001). DISCUSSION AND CONCLUSIONS: There is significant reduction of the distance between carotid canals in brachycephalic patients. This distance is more significantly altered in FGFR-related brachycephaly syndromes (especially Crouzon and Pfeiffer syndromes), than Saethre-Chotzen syndrome (TWIST1 mutation) and isolated non-syndromic bicoronal synostosis. This study highlights the importance of FGFRs in shaping the skull base. Altered vascular course of the internal carotid arteries can have important implications in planning skull base surgery in brachycephalic patients.
Asunto(s)
Arterias Carótidas/patología , Craneosinostosis/patología , Adolescente , Arterias Carótidas/diagnóstico por imagen , Arterias Carótidas/crecimiento & desarrollo , Estudios de Casos y Controles , Niño , Preescolar , Disostosis Craneofacial/diagnóstico por imagen , Disostosis Craneofacial/patología , Disostosis Craneofacial/cirugía , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Femenino , Humanos , Lactante , Masculino , Tamaño de los Órganos , Procedimientos de Cirugía Plástica , Estudios Retrospectivos , Base del Cráneo/diagnóstico por imagen , Base del Cráneo/crecimiento & desarrollo , Base del Cráneo/patología , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
Primary central nervous system lymphoma (PCNSL) is a rare aggressive high-grade type of extranodal lymphoma. PCNSL can have a variable imaging appearance and can mimic other brain disorders such as encephalitis, demyelination, and stroke. In addition to PCNSL, the CNS can be secondarily involved by systemic lymphoma. Computed tomography and conventional MRI are the initial imaging modalities to evaluate these lesions. Recently, however, advanced MRI techniques are more often used in an effort to narrow the differential diagnosis and potentially inform diagnostic and therapeutic decisions.
Asunto(s)
Neoplasias del Sistema Nervioso Central/diagnóstico por imagen , Linfoma/diagnóstico por imagen , Neuroimagen/métodos , Neoplasias del Sistema Nervioso Central/terapia , Humanos , Linfoma/terapiaRESUMEN
STUDY OBJECTIVES: Children with craniofacial anomalies are a heterogeneous group at high risk for obstructive sleep apnea (OSA). However, the prevalence and structural predictors of OSA in this population are unknown. We hypothesized that infants with micrognathia would have more significant OSA than those with isolated cleft palate ± cleft lip (ICP), and those with ICP would have more significant OSA than controls. We postulated that OSA severity would correlate with reduced mandibular size, neurodevelopmental scores, and growth. METHODS: Prospective cohort study. 15 infants with ICP, 19 with micrognathia, and 9 controls were recruited for polysomnograms, neurodevelopmental testing, cephalometrics (ICP and micrognathia groups) at baseline and a follow-up at 6 mo. RESULTS: Baseline apnea-hypopnea index (AHI) [median (range)] of the micrognathia group [20.1 events/h (0.8, 54.7)] was greater than ICP [3.2 (0.3, 30.7)] or controls [3.1 (0.5, 23.3)] (p = 0.001). Polysomnographic findings were similar between ICP and controls. Controls had a greater AHI than previously reported in the literature. Cephalometric measures of both midface hypoplasia and micrognathia correlated with OSA severity. Neurodevelopment was similar among groups. OSA improved with growth in participants with ICP and postoperatively in infants with micrognathia. CONCLUSIONS: Micrognathia, but not ICP, was associated with more significant OSA compared to controls. Both midface and mandibular hypoplasia contribute to OSA in these populations. OSA improved after surgical correction in most infants with micrognathia, and improved without intervention before palate repair in infants with ICP.
Asunto(s)
Fisura del Paladar/epidemiología , Micrognatismo/epidemiología , Apnea Obstructiva del Sueño/epidemiología , Estudios de Cohortes , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Philadelphia/epidemiología , Polisomnografía , Prevalencia , Estudios Prospectivos , Índice de Severidad de la EnfermedadAsunto(s)
Arteria Oftálmica/lesiones , Hemorragia Subaracnoidea/etiología , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Persona de Mediana Edad , Arteria Oftálmica/diagnóstico por imagen , Radiografía , Conducta Autodestructiva/complicaciones , Conducta Autodestructiva/etiología , Hemorragia Subaracnoidea/diagnóstico por imagenRESUMEN
PURPOSE: The shape and size of the foramen magnum (FM) can be altered in craniosynostoses. However, few studies have investigated these changes. In this paper, we investigate the morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. METHODS: Surface area, anteroposterior (AP) diameter, and transverse diameters of the FM were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, and isolated bicoronal synostosis (9) and compared to an age-matched control group (30). RESULTS: A significantly smaller FM surface area was observed in Crouzon (6.3 ± 1.7 cm(2)) and Pfeiffer (6.4 ± 2.3 cm(2)) syndromes as compared to the control group (7.4 ± 1.3 cm(2), p = 0.006 and p = .017, respectively). In comparison to the control group, no statistically significant alteration in FM surface area was noted in patients with Apert, Saethre-Chotzen, or isolated bicoronal synostosis (p = 0.37, p = 0.71, p = 0.40 respectively). The transverse diameter of FM was significantly smaller in Crouzon, Pfeiffer, and Apert syndromes compared to the control group (p = 0.005, p = 0.002, p = 0.03 respectively). In Saethre-Chotzen and isolated bicoronal synostosis, no difference in transverse diameter was demonstrated. Among all groups, only Crouzon syndrome showed reduced anteroposterior diameter as compared to controls (p = 0.005). In Pfeiffer and Apert syndromes, there was elongation of the shape of the FM with a relatively narrowed width as demonstrated in a significantly increased AP to transverse diameter ratio (p = 0.002 and p = 0.019, respectively). DISCUSSION AND CONCLUSIONS: The FM shape and area is significantly altered in fibroblast growth factor receptor (FGFR)-related brachycephaly syndromes (Crouzon, Pfeiffer, and Apert), whereas in patients with Saethre-Chotzen syndrome (TWIST-1 mutation) and isolated non-syndromic bicoronal synostosis, the shape and mean FM area was not statistically different from that of normals. This study brings to light the important role of FGFRs on FM growth and shape. TWIST-1 mutation (Saethre-Chotzen syndrome) does not appear to have an important effect in shaping the FM.