Cases Of Craniosynostosis Research Articles

Maternal occupational exposure to polycyclic aromatic hydrocarbons and craniosynostosis among offspring in the National Birth Defects Prevention Study.

Evidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for craniosynostosis, a birth defect characterized by the premature closure of sutures in the skull. We conducted a case-control study to examine associations between maternal occupational exposure to PAHs and craniosynostosis. We used data from craniosynostosis cases and control infants in the National Birth Defects Prevention Study (NBDPS) with estimated delivery dates from 1997 to 2002. Industrial hygienists reviewed occupational data from the computer-assisted telephone interview and assigned a yes/no rating of probable occupational PAH exposure for each job from 1 month before conception through delivery. We used logistic regression to assess the association between occupational exposure to PAHs and craniosynostosis. The prevalence of exposure was 5.3% in case mothers (16/300) and 3.7% in control mothers (107/2,886). We observed a positive association between exposure to PAHs during the 1 month before conception through the third month of pregnancy and craniosynostosis (odds ratio [OR] = 1.75; 95% confidence interval [CI], 1.01-3.05) after adjusting for maternal age and maternal education. The number of cases for each craniosynostosis subtype limited subtype analyses to sagittal craniosynostosis; the odds ratio remained similar (OR = 1.76, 95% CI, 0.82-3.75), but was not significant. Our findings support a moderate association between maternal occupational exposure to PAHs and craniosynostosis. Additional work is needed to better characterize susceptibility and the role PAHs may play on specific craniosynostosis subtypes.

The Total Calvarial Remodeling with Transsutural Distraction Osteogenesis of 21 Cases of Craniosynostosis: New, Efficient, Safe and Natural Method in Craniosynostosis Surgery

Introduction: The majority of the present distraction osteogenesis techniques involve local site expansion that only produces localized decompression and affords limited decompression and cosmetic results. We designed a new surgical procedure, total calvarial transsutural distraction osteogenesis (TSuDO). Methods: We performed total calvarial TSuDO surgical procedures in 21 children. The total calvarial TSuDO method consisted of suturectomy and distraction for the sagittal, bicoronal and bilambdoid sutures. Results: The mean surgery duration was 110 ± 16 min, the mean transfusion volume was 38 ± 45 ml, an average 4.1 ± 0.4 distractors were applied with a mean latency period of 3.3 ± 0.9 days. The mean activation period was 45 ± 18 days with a consolidation period of 54 ± 23 days. There were 3 complication cases of early removal of the distractors: 1 boy with transient 6th cranial nerve palsy accompanied by fever and 2 children with mild pus discharge from the distractor sites. Preoperative lumbar puncture pressures decreased significantly after distractor removal secondary to surgery (p < 0.001). The preoperative cranium size increased significantly (p < 0.001). Conclusion: Total calvarial TSuDO is a simple and safe procedure that may produce wide generalized decompression and good cranial configurations that most closely resemble normal skulls.

Management of craniosynostosis at an advanced age: Clinical findings and interdisciplinary treatment in a 17 year-old with pan-suture synostosis

Abstract Craniosynostosis is the premature fusion of cranial sutures, occurring at a rate of approximately 1 in 2000 live births; it is usually diagnosed and treated within the first year-of-life. Some diagnoses are delayed and only detected later in childhood or adolescence when symptoms of increased intracranial pressure (ICP) arise such as headaches and vision changes. We present a case of occult craniosynostosis in which a relatively normocephalic 17-year-old male presented with debilitating headaches, optic nerve edema, and developmental delay consistent with probable ICP elevation. CT scan demonstrated pan-suture craniosynostosis. Invasive monitoring confirmed increased ICP for which he underwent cranial remodeling and expansion. While the functional benefits of cranial remodeling are still vigorously debated, this patient’s headaches resolved postoperatively. Clinicians should be cognizant of cases of occult craniosynostosis, obtain the appropriate preoperative evaluations, and recognize the utility of cranial remodeling in appropriately selected patients.

Anesthetic management of a rare case of craniosynostosis

Craniosynostosis is a condition of premature intrauterine fusion of sutures causing abnormal skull shape, neurological abnormalities and increased intracranial pressure. It can occur as an isolated condition or may be part of a syndrome. The key to treating an infant with craniosynostosis is early diagnosis and accurate treatment as untreated craniosynostosis can affect mental development and visual abnormalities which are linked to raised intracranial pressure. In this case, we describe the anesthetic management of a 13-month-old baby, a case of nonsyndromic craniosynostosis involving sagittal, metopic and coronal sutures posted for strip craniectomies.

Fronto-orbital advancement: Revisited

Introduction: Craniosynostosis is a pathologic condition resulting from the premature fusion of cranial vault sutures, resulting in craniofacial deformities. Anterior craniosynostosis can involve a combination of metopic/unicoronal or bicoronal sutures. Aims and Objectives: Fronto-orbital advancement (FOA) is the standard surgical treatment. This article attempts to highlight the importance of modifying the osteotomies and reshaping of the cranial vault based on individual requirements to achieve the best possible result. Method and Results: Three consecutive cases of anterior craniosynostosis (metopic with unicoronal, unicoronal with sphenoethmoidal, bicoronal) with individual modifications of the technique used in each case are presented. Conclusion : FOA has to be tailored for each variant of anterior craniosynostosis and its requirements. The Technical variations can be applied to any combination of anterior craniosynostosis.

Rapidly polymerizing injectable click hydrogel therapy to delay bone growth in a murine re-synostosis model

Craniosynostosis is the premature fusion of cranial sutures, which can result in progressive cranial deformations, increased intracranial pressure, and restricted brain growth. Most cases of craniosynostosis require surgical reconstruction of the cranial vault with the goal of increasing the intracranial volume and correcting the craniofacial deformities. However, patients often experience rapid post-operative bone regrowth, known as re-synostosis, which necessitates additional surgical intervention. Bone morphogenetic protein (BMP) inhibitors have tremendous potential to treat re-synostosis, but the realization of a clinically viable inhibitor-based therapeutic requires the development of a delivery vehicle that can localize the release to the site of administration. Here, we present an in situ rapidly crosslinking injectable hydrogel that has the properties necessary to encapsulate co-administered proteins and demonstrate that the delivery of rmGremlin1 via our hydrogel system delays bone regrowth in a weanling mouse model of re-synostosis. Our hydrogel is composed of two mutually reactive poly(ethylene glycol) macromolecules, which when mixed crosslink via a bio-orthogonal Cu free click reaction. Hydrogels containing Gremlin caused a dose dependent inhibition of bone regrowth. In addition to craniofacial applications, our injectable click hydrogel has the potential to provide customizable protein, small molecule, and cell delivery to any site accessible via needle or catheter.

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial sutures, is a relatively common birth defect in humans and the second most common craniofacial anomaly after orofacial clefts. There is a significant clinical variation among different sutural synostoses as well as significant variation within any given single-suture synostosis. Craniosynostosis can be isolated (i.e., nonsyndromic) or occurs as part of a genetic syndrome (e.g., Crouzon, Pfeiffer, Apert, Muenke, and Saethre-Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are nonsyndromic. Several recent genomic discoveries are elucidating the genetic basis for nonsyndromic cases and implicate the newly identified genes in signaling pathways previously found in syndromic craniosynostosis. Published epidemiologic and phenotypic studies clearly demonstrate that nonsyndromic craniosynostosis is a complex and heterogeneous condition supporting a strong genetic component accompanied by environmental factors that contribute to the pathogenetic network of this birth defect. Large population, rather than single-clinic or hospital-based studies is required with phenotypically homogeneous subsets of patients to further understand the complex genetic, maternal, environmental, and stochastic factors contributing to nonsyndromic craniosynostosis. Learning about these variables is a key in formulating the basis of multidisciplinary and lifelong care for patients with these conditions.

Apert Syndrome in the Era of Prenatal Diagnosis

ABSTRACT Apert syndrome is a rare autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly. The syndactyly involves both cutaneous and osseous structures of the upper and lower limbs. Apart from skeletal anomalies, affected fetuses may often present central nervous system malformations and various visceral malformations (congenital heart defects, genitourinary anomalies, choanal stenosis, tracheal abnormalities, diaphragmatic hernia and omphalocele). Mental retardation is frequently encountered, as are a large variety of craniofacial and neurocognitive phenotypes. The incidence of Apert syndrome is approximately one in 65,000 newborns, representing 4.5% of all craniosynostosis cases. The first cases of Apert syndrome were diagnosed by ultrasound and fetoscopy in the third trimester of pregnancy. With the introduction of three-dimensional (3D) ultrasonography, identification of fetal changes characteristic of Apert syndrome is possible in the second trimester of pregnancy. Diagnosis confirmation requires fetal DNA analysis by fibroblast growth factor receptor 2 gene amplification (FGFR2) followed by sequencing and digestion with restriction enzymes. Recently, noninvasive prenatal diagnosis was reported using free fetal DNA analysis with cell-free fetal DNA (cffDNA) in maternal plasma by Polymerase Chain Reaction (PCR) assay and enzymatic digestion with restriction enzymes. As the syndrome has rarely been reported in Romania, we present the case of a fetus diagnosed with Apert syndrome in the second trimester of pregnancy. Early ultrasound detection of suggestive signs for this syndrome (craniosynostosis, syndactyly) was followed by confirmation of the diagnosis by prenatal fetal DNA analysis. How to cite this article Stamatian F, Kovacs T, Militaru M, Caracostea G. Apert Syndrome in the Era of Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol 2014;8(2):222-225.

The dentist's role in diagnosing craniofacial dysostosis

Introduction: The Crouzon syndrome is a rare clinical condition that affects the craniofacial skeleton development. It accounts for about 4.8% of all the cases of craniosynostosis, and it is the most common syndrome presenting with craniosynostoses. The Crouzon syndrome’s early diagnosis is critical to avoid cranial hypertension as well as visual disturbances and blindness. Children who have Crouzon syndrome have a range of problems of variable severity, from mild facial defects causing a primarily cosmetic concern, to severe symptoms affecting breathing, feeding, vision and brain development. The dental profession should have sufficient knowledge of syndromes associated with dysmorphic facies to detect patients who are unaware of their condition. Case Report: A 23­year­old female patient presented to the clinic with multiple dental problems affecting masticatory efficiency and esthetics. On observation, it was seen that she had many facial and dental deformities which were suggestive of craniofacial dysostosis. The case was diagnosed as Crouzon syndrome. Conclusion: This case report emphasizes the role of a dentist in diagnosing such conditions and coordinating a multi­disciplinary team for corrective measures.

Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant.

Patient: Female, 14 monthsFinal Diagnosis: Slit ventricle syndromeSymptoms: Hydrocephalus • lethargy and seizure • vomitingMedication: —Clinical Procedure: —Specialty: Pediatrics and NeonatologyObjective:Challenging differential diagnosisBackground:Shunt surgery is a common solution for hydrocephalus in infancy. Slit ventricle syndrome and secondary craniosynostosis are late-onset complications after shunt placement; these 2 conditions occasionally occur together.Case Report:We report a case of early-onset secondary craniosynostosis with slit ventricle syndrome after shunt surgery in an infant, which led to a catastrophic increase in intracranial pressure (ICP). A 4-month-old girl with a Dandy-Walker malformation underwent a ventriculoperitoneal shunt procedure. Her head circumference (HC) gradually decreased to approximately the 5th percentile for her age group after shunt surgery. Seven months later, she developed increased ICP symptoms and underwent a shunt revision with a diagnosis of shunt malfunction. Her symptoms were temporarily relieved, but she repeatedly visited the emergency room (ER) for the same symptoms and finally collapsed, with an abrupt increase in ICP, 3 months later. Further evaluation revealed the emergence of sagittal synostosis at 7 months after initial shunt surgery. After reviewing all clinical data, slit ventricle syndrome combined with secondary craniosynostosis was diagnosed. Emergent cranial expansion surgery with shunt revision was performed, and the increased ICP signs subsided in the following days.Conclusions:Clinical suspicion and long-term HC monitoring are important in the diagnosis of slit ventricle syndrome and secondary craniosynostosis after shunt surgery, even in infants and young children.

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone.

Craniosynostosis, the premature fusion of one or more skull sutures, occurs in approximately 1 in 2500 infants, with the majority of cases non-syndromic and of unknown etiology. Two common reasons proposed for premature suture fusion are abnormal compression forces on the skull and rare genetic abnormalities. Our goal was to evaluate whether different sub-classes of disease can be identified based on total gene expression profiles. RNA-Seq data were obtained from 31 human osteoblast cultures derived from bone biopsy samples collected between 2009 and 2011, representing 23 craniosynostosis fusions and 8 normal cranial bones or long bones. No differentiation between regions of the skull was detected, but variance component analysis of gene expression patterns nevertheless supports transcriptome-based classification of craniosynostosis. Cluster analysis showed 4 distinct groups of samples; 1 predominantly normal and 3 craniosynostosis subtypes. Similar constellations of sub-types were also observed upon re-analysis of a similar dataset of 199 calvarial osteoblast cultures. Annotation of gene function of differentially expressed transcripts strongly implicates physiological differences with respect to cell cycle and cell death, stromal cell differentiation, extracellular matrix (ECM) components, and ribosomal activity. Based on these results, we propose non-syndromic craniosynostosis cases can be classified by differences in their gene expression patterns and that these may provide targets for future clinical intervention.

Suitable Indication for the Application of Distraction Osteogenesis

In recent years, cranial distraction osteogenesis (DOG) for craniosynostosis has often been performed in Japan. Since 1998, DOG has been conducted in more than 80 patients with craniosynostosis in our institution. It is now important to define the appropriate indications for the application of DOG for craniosynostosis. From the point of view of our more than 10 years of experience with the application of cranial DOG, posterior enlargement is one of the most appropriate applications. Bilateral posterior expansion is conducted for hypertension because of bilateral lambdoidal synostosis, whereas unilateral posterior expansion is conducted for asymmetry because of unilateral posterior plagiocephaly. Posterior expansion by gradual distraction was conducted for 12 cases. Eight cases of syndromic craniosynostosis and 4 of simple unilateral lambdoid synostosis were included. Clinical and radiological improvement was observed in all cases. Postdistraction computed tomography demonstrated a decrease in digital printing within a few months in all cases. Distraction osteogenesis is a useful procedure for posterior enlargement by gradual expansion and guarantees postdistraction rigidity without collapse in a supine position in bilateral and unilateral lambdoid synostosis.

Editorial on trigonocephaly

Trigonocephaly, which is called as “metopic suture synostosis”, is a single-suture synostosis that is commonly seen. However, in recently published manuscripts, the incidence is slowly increasing. In the series regarding epidemiology, it appears that it is catching up with the sagittal suture synostosis, which was previously the most frequently seen craniosynostosis type. It is difficult to explain the cause of the increase of the trigonocephaly incidence. I would like to underline a couple of interesting points: Firstly, we do not know the natural history of trigonocephaly. Secondly, when we go through the literature, we do not find anything belonging to the adult trigonocephaly, except one to two cases that were published before. Yet, there are some adult patients with other type craniosynostosis cases were published. During my personal communication, a few pediatric neurosurgeons have mentioned that they have seldom seen adult trigonocephaly patients, but they did not document the cases. We are yet to know if some trigonocephaly cases recover without treatment or they are well because all of them were operated on that is why we do not t see any adult patients. Radiologically or pathologically, we observe a sharp angle and keel shape on the fronto-orbital area. Theoretically, there is a structural abnormality in the skull base. At the essential of the surgical treatment, the fronto-orbital angle is straightened. Then, the frontal bones are shaped with various surgical techniques. Many surgical techniques have been published; however, in all of them, the anterior skull base is reconstructed first. So, how does the skull base take normal shape as a result of the endoscope-assisted metopic suture removal, which has become widespread lately? We do not know much about this. Mostly positive cosmetic outcomes are received as a result of surgical treatment. There is insufficient data regarding secondary synostosis and rate of reoperations. Trigonocephaly is generally sporadic. However, it can be seen along with some syndromes. It is usually found with FGFR 1 anomalies. Unfortunately, there is insufficient knowledge on the genes that affect the formation of the base of the skull and cause trigonocephaly. Many studies show the intracranial pressure (ICP) increase even in simple suture synostosis. However, in some trigonocephaly cases, an increased ICP has been published. The exact cause is also not well understood. The compression of the frontal lobes, by the narrowing of the frontal area, causes neurobehavioral and neurocognitive disorders. In some published series, it was reported that these were recovered after the surgical intervention. The extent to how much these have improved and the effect of the timing of the surgeries are not precisely known. In this focus issue, we search for the answers of some of the questions I have mentioned above. However, I believe that we need to do numerous researches to be able to answer all of the questions.

Twenty-five-years follow-up results of our total cranial reshaping “bamboo-ware method”

For patients with craniosynostosis, there is no single procedure available for reconstructing a normal cranial shape, regardless of the type of deformity. To achieve ideal dynamic total skull remodeling for any type of craniosynostosis, we developed the bamboo-ware method. Using two or three coronal bars as landmarks, the anterior-posterior length of the skull was determined using the sagittal bandeau, thereby creating the basic framework for reconstruction. Bone was then bridged to the remaining defects in a manner resembling woven bamboo. We treated 30 craniosynostosis patients (20 isolated cases and 10 cases of syndromic craniosynostosis) using the bamboo-ware method. Although intracranial infection was observed in three cases during the postoperative period, no deaths or serious complications were noted. In all patients, good cranial shape and adequate cranial volume were achieved. The bamboo-ware method enabled outstanding results for every type of synostosis. This method could not only treat the deformity, but also resulted in good cranial form with a single operation.

Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population

OBJECTIVE:The Objective of this study was to identify the association of mutation of fibroblast growth factor receptor 1 (FGFR1), FGFR2 genes with syndromic as well as non-syndromic craniosynostosis in Indian population.MATERIALS AND METHODS:Retrospective analysis of our records from January 2008 to December 2012 was done. A total of 41 cases satisfying the inclusion criteria and 51 controls were taken for the study. A total volume of 3 ml blood from the patient as well as parents was taken. Deoxyribonucleic acid extracted using phenol chloroform extraction method followed by polymerase chain reaction-restriction fragment length polymorphism method.RESULTS:There were 33 (80.4%) non-syndromic cases of craniosynostosis while 8 (19.5%) were syndromic. Out of these 8 syndromic cases, 4 were Apert syndrome, 3 were Crouzon syndrome and 1 Pfeiffer syndrome. Phenotypically the most common non-syndromic craniosynostosis was scaphocephaly (19, 57.7%) followed by plagiocephaly in (14, 42.3%). FGFR1 mutation (Pro252Arg) was seen in 1 (2.4%) case of non-syndromic craniosynostosis while no association was noted either with FGFR1 or with FGFR2 mutation in syndromic cases. None of the control group showed any mutation.CONCLUSION:Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world.

Preoperative and Postoperative Orbital Volume in Patients With Crouzon and Apert Syndrome

Crouzon and Apert syndromes are frequently complicated by ocular abnormalities and patients with these syndromes often present with abnormal ocular morphology. The present study assesses orbital volume and ocular complications in patients associated with Crouzon and Apert syndromes.During an 8-year period starting in 2002, fronto-orbital advancement was used for cranial expansion on 23 cases of syndromic craniosynostosis. Of those, it was possible to evaluate 5 Crouzon and eight Apert syndrome cases. Orbital volume was measured using multislice CT scans. Both preoperative and postoperative orbital volumes were compared with normal orbital volume.Preoperative orbital volume was 5.8 to 10.0 cm (mean, 7.1 cm) in patients with Crouzon syndrome and 7.2 to 10.8 cm (mean, 9.1 cm) in patients with Apert syndrome. Postoperative intraorbital volume was 9.4 to 11.2 cm (mean, 10.4 cm) in patients with Crouzon syndrome and 11.6 to 13.2 cm (mean, 12.4 cm) in patients with Apert syndrome. The mean of orbital volume relative to the normal volume was 58% preoperatively and 74% postoperatively in patients with Crouzon syndrome and 69% (56-81%) preoperatively and 88% (81-95%) postoperatively in patients with Apert syndrome.In conclusion, orbital volume was smaller in the Crouzon syndrome group than in the Apert syndrome group, and symptoms, such as exophthalmos and exotropia, were noted in the Crouzon syndrome group. Orbit expansion did not fully restore normal orbital volume, but in most cases, it was useful for alleviation of preoperative symptoms (exophthalmos/eyeball prolapse, corneal erosion, conjunctivitis).

Association study of five mutation in FGFR1 and FGFR2 genes in Indian children with craniosynostosis

Background: Craniosynostosis is one the major genetic disorder in children and it occurs in 1 per 2,200 live births. It may be define as abnormal premature fusion of the cranial sutures bones in children. Several causes have been reported that may have a possible role in the development of the disorder. Fibrinogen growth Factor 1(FGFR1) &amp; fibroblast growth factor receptor 2 (FGFR2) show a vital role in developing the craniosynostosis in western population?s children but from India no report is available. The aim of this study was to investigate the association between mutation of FGFR1 and FGFR2 (IIIa and IIIb) genes with syndromic as well as non-syndromic craniosynostosis in Indian population. Methods: Retrospective analysis of our records from January 2008 to December 2012 was done. A total of Sixty three children (along with their parents) with craniosynostosis and Fifty one children with No-craniosynostosis (healthy school going children) attending the Monday out Patient Door (OPD) facility of the department of Paediatric Surgery, All India Institute of Medical Sciences (AIIMSs), Delhi, India were considered for the study. A restriction fragment length polymorphism (RFLP) polymerase chain reaction (PCR) was carried out for genotyping Fibrinogen growth Factor 1 (FGFR1) &amp; fibroblast growth factor receptor 2 (FGFR2) mutations in all the participants. Results: There were 33 (80.4%) nonsyndromic cases of craniosynostosis while 8 (19.5%) were syndromic. Out of these 8 syndromic cases, 4 were Apert syndrome, 3 were Crouzon syndrome and 1 Pfeiffer syndrome. Phenotypically the most common nonsyndromic craniosynostosis was scaphocephaly (19, 57.7%) followed by plagiocephaly in (14, 42.3%). FGFR1 mutation (Pro252Arg) was seen in 1 (2.4%) case of nonsyndromic craniosynostosis while no association was noted either with FGFR1 or with FGFR2 (IIIa &amp; IIIc) mutation in syndromic cases. None of the control group showed any mutation. Conclusion: Our study provides the strongest evidence that association of mutation of FGFR1, FGFR2 (IIIa &amp; IIIb) with syndromic as well as nonsyndromic craniosynostosis does not exist in Indian population as seen in western population.

Crouzons syndrome: A case report with review of literature

Louis Edouard Octave Crouzon, a French neurologist, in 1912, described the hereditary syndrome of craniofacial synostosis in a mother and son. He described the triad as skull deformities, facial anamolies and exopthalmos now known as Crouzon syndrome (CS). CS accounts for about 4.8% of all cases of craniosynostosis. We report a case of CS in 4 year old girl with characteristic features of cranial deformity, maxillary hypoplasia, cleft palate and exopthalmos.

Familial nonsyndromic craniosynostosis with specific deformity of the cranium

An otherwise healthy, developmentally normal 3-week-old male infant presented with complex multisuture craniosynostosis involving the metopic suture and bilateral coronal sutures with frontal prominence and hypotelorism. Frontal craniectomy and bilateral frontoorbital advancement remodeling were performed at the age of 5 months. The postoperative course was uneventful. The child's development was normal up to 8 months after the operation. His father and grandfather had similar specific deformities of the cranium, but no anomaly of the extremities was found, and conversation suggested that their intelligence was normal, excluding the possibility of syndromic craniosynostosis. A DNA analysis revealed large-scale copy number polymorphism of chromosome 4 in the patient and his family, which may include the phenotype of the cranium. Neither FGFR mutation nor absence of a TWIST1 mutation in the sequence from 291 to 1087, which includes DNA binding, Helix1, Loop, and Helix2, was identified. The patient apparently had a rare case of familial nonsyndromic craniosynostosis. The authors plan further genomic analysis of this family and long-term observation of the craniofacial deformity of this patient.

Asymmetric laterality of Chiari type I malformation in patients with non-syndromic single-suture craniosynostosis

Chiari type I malformation is a frequent incidental finding commonly associated with craniosynostosis. However, there seems to be a paucity of literature concerning the asymmetry of tonsillar herniation in patients with non-syndromic single-suture craniosynostosis. To study the asymmetry in this cohort, measurements of the right and left tonsils were made from sagittal images from both pre-operative and post-operative images from 11 patients with non-syndromic single-suture craniosynostosis. Pre-operatively, the mean difference between the caudal descent of all tonsils ranged from 0 to 7mm, with a mean difference between sides of 2.45mm. In three cases, cerebellar tonsils were symmetrically herniated. Post-operatively, the mean difference between caudal descent of all tonsils ranged from 0 to 4mm, with a mean difference between sides of 1.45mm. Four were symmetrically herniated. In patients with non-syndromic single-suture craniosynostosis, the tonsillar herniation is asymmetric in the majority of cases. Asymmetry of cerebellar tonsil herniation is a frequent finding in this cohort. The right tonsil is more inferiorly located in majority of cases, with predominance to the synostotic suture side in asymmetric craniosynostosis cases.