Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy.

Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea due to the underdevelopment of the midface.Case report: A 12 year old boy of Crouzon’s syndrome with chronic adeno-tonsillitis was managed by adeno-tonsillectomy under general anaesthesia by scalpel cautery method. The boyresponded well to surgery & the mild sleep disorder disappeared within a week uveventfully.Conclusion: Sleep disorders in this condition can be treated by improving the airway by selective procedures like midface advancement, mandibular expansion , adeno-tonsillectomy,uvulo-palatopharyngoplasty, anterior tongue reduction & endoscopic tracheal granuloma excision.

Treatment timing and multidisciplinary approach in Apert syndrome

Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients’ age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members

Higher fibrinogen concentrations for reduction of transfusion requirements during major paediatric surgery: A prospective randomised controlled trial†

Background Hypofibrinogenaemia is one of the main reasons for development of perioperative coagulopathy during major paediatric surgery. The aim of this study was to assess whether prophylactic maintenance of higher fibrinogen concentrations through administration of fibrinogen concentrate would decrease the volume of transfused red blood cell (RBCs). Methods In this prospective, randomised, clinical trial, patients aged 6 months to 17 yr undergoing craniosynostosis and scoliosis surgery received fibrinogen concentrate (30 mg kg−1) at two predefined intraoperative fibrinogen concentrations [ROTEM® FIBTEM maximum clot firmness (MCF) of <8 mm (conventional) or <13 mm (early substitution)]. Total volume of transfused RBCs was recorded over 24 h after start of surgery. Results Thirty children who underwent craniosynostosis surgery and 19 children who underwent scoliosis surgery were treated per protocol. During craniosynostosis surgery, children in the early substitution group received significantly less RBCs (median, 28 ml kg−1; IQR, 21 to 50 ml kg−1) compared with the conventional fibrinogen trigger of <8 mm (median, 56 ml kg−1; IQR, 28 to 62 ml kg−1) (P=0.03). Calculated blood loss as per cent of estimated total blood volume decreased from a median of 160% (IQR, 110-190%) to a median of 90% (IQR, 78-110%) (P=0.017). No significant changes were observed in the scoliosis surgery population. No bleeding events requiring surgical intervention, postoperative transfusions of RBCs, or treatment-related adverse events were observed. Conclusions Intraoperative administration of fibrinogen concentrate using a FIBTEM MCF trigger level of <13 mm can be successfully used to significantly decrease bleeding, and transfusion requirements in the setting of craniosynostosis surgery, but not scoliosis. Clinical trial registry number ClinicalTrials.gov NCT0148783

Using Peripheral Venous Pressure Waveforms to Predict Key Hemodynamic Parameters

Analysis of peripheral venous pressure (PVP) waveforms is a novel method of monitoring intravascular volume. Two cohorts were used to study the hemodynamics change of the body state and its influence on the PVP using (1) dehydration setting with infants suffering from pyloric stenosis and (2) hemorrhage setting during a craniosynostosis elective surgery. The goal of this research is to develop a minimally invasive method of analyzing the PVP waveforms and find correlations with volume loss. Twenty-three pyloric stenosis patients PVP were acquired at five stages and were divided into euvolemic, normal fluid volume, and hypovolemic, significant fluid loss. Seven craniosynostosis patients were enrolled and the PVP was acquired at the intervention to explore if the isoflurane dosage influences the PVP. A multivariate analysis of variances (MANOVA) was used to test if the PVP was influenced by the volume change and the anesthetic drugs effect. Prediction algorithms based on Fast Fourier Transform were utilized at the two cohort patients analyses to classify an arbitrary PVP into its correct classification. Our research found that PVP signal is influenced by the different hemodynamics states of the body. Based on MANOVA outcomes, we built prediction systems and they were able to categorize an arbitrary PVP signal into its correct classification. The k-nearest neighbor (k-NN) model correctly predicted 77% of the data in the euvolemic and hypovolemic groups. The k-NN models of the anesthetic drugs were able to correctly predict correctly at least 85% of the preoperative and intraoperative signals of the pyloric stenosis patients and the different isoflurane dosages of the craniosynostosis patients. Analyzing the PVP signal is a promising tool for measuring the dehydration level in acute settings. Our results imply that the subsequent changes in vascular resistance due to inhaled and infused anesthetics are reflected in the peripheral veins. A technology that would accurately assess the volume status of a patient to guide triage and treatment would be a significant improvement in various care settings. This minimally invasive technology utilizes a standard peripheral intravenous line and a commercial pressure-monitoring transducer, which exist today and requires no new clinical skills

Three-Dimensional Handheld Scanning to Quantify Head-Shape Changes in Spring-Assisted Surgery for Sagittal Craniosynostosis

Three-dimensional (3D) imaging is an important tool for diagnostics, surgical planning, and evaluation of surgical outcomes in craniofacial procedures. Gold standard for acquiring 3D imaging is computed tomography that entails ionizing radiations and, in young children, a general anaesthesia. Three-dimensional photographic imaging is an alternative method to assess patients who have undergone calvarial reconstructive surgery. The aim of this study was to assess the utility of 3D handheld scanning photography in a cohort of patients who underwent spring-assisted correction surgery for scaphocephaly. Pre- and postoperative 3D scans acquired in theater and at the 3-week follow-up in clinic were postprocessed for 9 patients. Cephalic index (CI), head circumference, volume, sagittal length, and coronal width over the head at pre-op, post-op, and follow-up were measured from the 3D scans. Cephalic index from 3D scans was compared with measurements from planar x-rays. Statistical shape modeling (SSM) was used to calculate the 3D mean anatomical head shape of the 9 patients at the pre-op, post-op, and follow-up. No significant differences were observed in the CI between 3D and x-ray. Cephalic index, volume, and coronal width increased significantly over time. Mean shapes from SSM visualized the overall and regional 3D changes due to the expansion of the springs in situ. Three-dimensional handheld scanning followed by SSM proved to be an efficacious and practical method to evaluate 3D shape outcomes after spring-assisted cranioplasty in individual patients and the population

Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome

Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures. While surgical correction is reliable, the need for repeated rounds of invasive treatment puts a heavy burden on the child and their family. This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes associated with Crouzon syndrome. We treated Crouzon syndrome mice before the onset of craniosynostosis by cyclical mechanical loading of cranial joints using a custom designed set-up. Cranial loading applied to the frontal bone partially restores normal skull morphology, significantly reducing the typical brachycephalic appearance. This is underpinned by the delayed closure of the coronal suture and of the intersphenoidal synchondrosis. This study provides a novel treatment alternative for syndromic craniosynostosis which has the potential to be an important step towards replacing, reducing or refining the surgical treatment of all craniosynostosis patients

Craniosynostosis in a South Africa population

Background: Craniosynostosis refers to the premature fusion of calvarial bones which lead to restricted growth potential. Compensatory growth occurs in the dimensions not restricted by fusion and causes progressive distortion in the skull shape. The majority of craniosynostosis cases occur in isolation and are so called non-syndromic craniosynostosis. In about 30 % of all cases, anomalies are noted along with the craniosynostosis, often defining a described and recognised syndrome. The aim is to delineate the phenotype observed in a South African population. Methods: In this descriptive study, hospital records for the preceding five years were retrospectively reviewed to describe the profile of patients with craniosynostosis seen at the Red Cross War Memorial Children's Hospital in Cape Town. In addition to the retrospective review, a sub cohort of patients were prospectively phenotyped. The patients were subdivided into three groups namely: non-syndromic craniosynostosis, syndromic craniosynostosis and craniosynostosis with additional features. The last group included patients who had additional malformations or clinical findings without a syndromic diagnosis. The prevalence of phenotypic findings, teratogen exposure, birth complications, congenital malformations, surgical interventions and results of genetic testing in this cohort is described. Descriptive statistical analysis was used. Results: A total of 47 children with craniosynostosis were included in this study. Twenty-five individuals of the cohort were male, and one patient has a disorder of sexual development. Eighteen patients had non-syndromic synostosis. Twelve of these had sagittal type synostosis and five had metopic type synostosis with one unspecified. Thirteen had syndromic synostosis. Eight were clinically diagnosed with Crouzon syndrome of which three were molecularly confirmed. Four patients had Apert syndrome and one had Pfeiffer syndrome, these were clinically diagnosed without molecular confirmation. Sixteen patients had craniosynostosis with some additional findings but no syndromic diagnosis. The suture involved in the majority of patients was the sagittal suture. Ten patients had an additional structural brain abnormality and 13 had signs of raised intracranial pressure. The average age at confirmation of diagnosis of craniosynostosis by CT scan was 22.5 months (SD = 31.4, range: 0.1 – 140.9). Thirty of the 47 patients had craniosynostosis surgery. The average age of surgery was 22.4 months (SD = 19; range: 5-79). The anthropometric, phenotype and developmental features indicate that this is a highly heterogenous group of disorders. Conclusion: Craniosynostosis has been widely reported worldwide, especially in individuals of European descent with only a few reports on craniosynostosis in South African or African populations. Knowledge of the phenotypic spectrum will aid in understanding and documenting this group of disorders in our local population. This study also highlights that this is a complex condition best managed by a multidisciplinary team that should include a medical geneticist. The recognition of specific craniosynostosis syndromes together with appropriate molecular testing can be cost effective even in a limited resource setting and aid in accurate prognosis and recurrence risk information for families

Quantifying the effect of corrective surgery for trigonocephaly: A non-invasive, non-ionizing method using three-dimensional handheld scanning and statistical shape modelling

Trigonocephaly in patients with metopic synostosis is corrected by fronto-orbital remodelling (FOR). The aim of this study was to quantitatively assess aesthetic outcomes of FOR by capturing 3D forehead scans of metopic patients pre- and post-operatively and comparing them with controls. Ten single-suture metopic patients undergoing FOR and 15 age-matched non-craniosynostotic controls were recruited at Great Ormond Street Hospital for Children (UK). Scans were acquired with a three-dimensional (3D) handheld camera and post-processed combining 3D imaging software. 3D scans were first used for cephalometric measurements. Statistical shape modelling was then used to compute the 3D mean head shapes of the three groups (FOR pre-op, post-op and controls). Head shape variations were described via principal component analysis (PCA). Cephalometric measurements showed that FOR significantly increased the forehead volume and improved trigonocephaly. This improvement was supported visually by pre- and post-operative computed mean 3D shapes and numerically by PCA (p < 0.001). Compared with controls, post-operative scans showed flatter foreheads (p < 0.001). In conclusion, 3D scanning followed by 3D statistical shape modelling enabled the 3D comparison of forehead shapes of metopic patients and non-craniosynostotic controls, and demonstrated that the adopted FOR technique was successful in correcting bitemporal narrowing but overcorrected the rounding of the forehead

Análisis de repetibilidad en videogrametría para la evaluación de la deformación craneal en niños

[EN] Cranial deformation affects a large number of infants. The methodologies commonly employed to measure the deformation include, among others, calliper measurements and visual assessment for mild cases and radiological imaging for severe cases, where surgical intervention is considered. Visual assessment and calliper measurements usually lack the required level of accuracy to evaluate the deformation. Radiological imaging, including Computed Tomography (CT) and Magnetic Resonance Imaging (MRI), are costly and highly invasive. The use of smartphones to record videos that can be used for three-dimensional (3D) modelling of the head has emerged as a low-cost, noninvasive methodology to extract 3D information of the patient. To be able to analyse the deformation, a novel technique is employed: the obtained model is compared with an ideal head. In this study we have tested the repeatability of the process. For this purpose, several models of two patients have been obtained and the differences between them are evaluated. The results show that the differences in the ellipsoid semiaxis for the same patient are usually below 4 mm, although they increase up to 6.4 mm in some cases. The variability in the distances to the ideal head, which are the values used to evaluate deformity, reaches a maximum value of 2.7 mm. The errors obtained are comparable to those of classical measurement techniques and show the potential of the methodology in development.[ES] La deformación craneal afecta a un elevado porcentaje de lactantes, a pesar de esto, no existen estándares para su medición. Existen diversas metodologías empleadas para el análisis de este tipo de deformación, que van desde el análisis visual o la medición con calibre en casos leves, a pruebas radiológicas en casos más graves, en los que se plantea la posibilidad de una intervención quirúrgica. El análisis visual y la medición con calibre a menudo carecen de la precisión requerida para evaluar la deformación, mientras que las pruebas radiológicas (Tomografía Axial Computarizada, TAC, o Resonancia Magnética, RM) son altamente invasivas y tienen un alto coste. Otras soluciones como la fotografía tridimensional (3D) incluyen complejos sistemas de varias cámaras, lo que también supone un coste elevado. La posibilidad de utilizar videos tomados con teléfonos inteligentes para la creación de modelos 3D craneales se ha convertido en una posibilidad para obtener información 3D del paciente de forma precisa y con un coste bajo. Para analizar la deformación se ha planteado una metodología que consiste en calcular las distancias entre el modelo generado y una forma craneal ideal. En este estudio se ha llevado a cabo el análisis de la repetibilidad del proceso de obtención del modelo y de la cabeza ideal ajustada, para ello se han obtenido varios modelos 3D de dos pacientes y se han evaluado las diferencias entre ellos. Los resultados muestran unas diferencias en los semiejes de los elipsoides de aproximadamente 4 mm, aunque este error llega a incrementarse hasta 6.4 mm en algunos casos. La variabilidad en las distancias del modelo a la cabeza ideal, empleadas para medir la deformidad tienen un máximo de 2.7 mm. Las precisiones obtenidas con esta metodología son comparables a las obtenidas mediante técnicas de análisis tradicionales y muestran el potencial de la metodología en desarrollo.This work was supported by Subprogram C (No. C10) for the development of coordinated actions between the UPV and the IIS La Fe.Barbero García, I.; Lerma García, JL.; Marqués Mateu, Á.; Miranda, P. (2017). Analysis of repeatability on videogrammetry for infants' cranial deformation. En Primer Congreso en Ingeniería Geomática. Libro de actas. Editorial Universitat Politècnica de València. 15-19. https://doi.org/10.4995/CIGeo2017.2017.6604OCS151

Use of black-bone MRI in the diagnosis of the patients with posterior plagiocephaly

Ionising radiation exposure is especially harmful to brain development. The purpose of this study was to evaluate whether black-bone (BB) magnetic resonance imaging (MRI), a non-ionising imaging method, offers an alternative to ionising imaging methods such as computed tomography (CT) in the examination of cranial deformities. From 2012 to 2014, a total of 408 children were referred to the Craniofacial Centre at the Helsinki University Hospital for further examination due to flatness of the posterior skull. Fifteen of these patients required further diagnostic imaging. To avoid ionising radiation, we used an MRI protocol that included sequences for evaluation of both brain anatomy and skull bone and sutures by BB-MRI. A semi-automatic skull segmentation algorithm was developed to facilitate the visualisation. Two patients with scaphocephaly were included in the study to confirm the ability to differentiate synostosis with BB-MRI. We obtained informative 3D images using BB-MRI. Seven patients (7/15, 46.7%) had plagiocephaly on the right side and seven on the left side (7/15, 46.7%). One patient (1/15, 6.7%) had symmetric posterior flatness affecting both sides. Neither structural nor signal-intensity alterations of the brain were detected in visual analysis. BB-MRI provides an alternative to CT when imaging craniofacial deformities. BB-MRI provides not only high-quality 3D-reconstructed imaging of the bony structures and sutures but also information on brain structure in one imaging session. With further development, this method could replace ionising radiation-based methods in analysing deformities of the skull.Peer reviewe