Publications by authors named "Irene M J Mathijssen"

111 Publications

Three-Dimensional Stereophotogrammetry in the Evaluation of Craniosynostosis: Current and Potential Use Cases.

J Craniofac Surg 2021 Jan 5;Publish Ahead of Print. Epub 2021 Jan 5.

Department of Neurosurgery Department of Radiology and Nuclear Medicine Research Intelligence and Strategy Unit Department of Oral- and Maxillofacial Surgery Department of Plastic, Reconstructive Surgery, and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam Faculty of Applied Sciences, Delft University of Technology, Delft Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Abstract: Three-dimensional (3D) stereophotogrammetry is a novel imaging technique that has gained popularity in the medical field as a reliable, non-invasive, and radiation-free imaging modality. It uses optical sensors to acquire multiple 2D images from different angles which are reconstructed into a 3D digital model of the subject's surface. The technique proved to be especially useful in craniofacial applications, where it serves as a tool to overcome the limitations imposed by conventional imaging modalities and subjective evaluation methods. The capability to acquire high-dimensional data in a quick and safe manner and archive them for retrospective longitudinal analyses, provides the field with a methodology to increase the understanding of the morphological development of the cranium, its growth patterns and the effect of different treatments over time.This review describes the role of 3D stereophotogrammetry in the evaluation of craniosynostosis, including reliability studies, current and potential clinical use cases, and practical challenges. Finally, developments within the research field are analyzed by means of bibliometric networks, depicting prominent research topics, authors, and institutions, to stimulate new ideas and collaborations in the field of craniofacial 3D stereophotogrammetry.We anticipate that utilization of this modality's full potential requires a global effort in terms of collaborations, data sharing, standardization, and harmonization. Such developments can facilitate larger studies and novel deep learning methods that can aid in reaching an objective consensus regarding the most effective treatments for patients with craniosynostosis and other craniofacial anomalies, and to increase our understanding of these complex dysmorphologies and associated phenotypes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000007379DOI Listing
January 2021

Introduction to Updated Guideline on Treatment and Management of Craniosynostosis.

J Craniofac Surg 2021 Jan-Feb 01;32(1):370

Department Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, Rotterdam, The Netherlands.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000007301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769178PMC
December 2020

Secondary vault reconstruction after open or minimal invasive correction for unisutural, multisutural or syndromic craniosynostosis: A cohort study on the impact of diagnosis and type of initial surgical technique.

J Plast Reconstr Aesthet Surg 2020 Nov 2. Epub 2020 Nov 2.

Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Center, Room Sk-1202, Wytemaweg 80, 3015 CN Rotterdam, the Netherlands.

Background: The aim of this study is to identify if certain types of craniosynostosis and/or surgical procedures are more likely to require a secondary intracranial procedure because of insufficient correction of skull shape or raised ICP after initial surgery.

Methods: All consecutive cases with craniosynostosis that were operated at our center between January 2010 and January 2019 were included and the number of secondary operations of the vault were determined, as well as diagnosis, the indication and type and timing of initial surgery. Monobloc and facial bipartition procedures were excluded.

Results: Over a nine year period, 790 vault corrections were performed in 780 patients of which 38 procedures were reoperations in 35 patient because of raised intracranial pressure or an insufficient esthetic result of the skull shape. Particularly patients with a multisutural or syndromic craniosynostosis are represented in this group, as well as three surgical procedures: 1. biparietal outfracturing for sagittal synostosis; 2. endoscopic stripcraniectomy with helmet therapy for unicoronal, multisutural or syndromic craniosynostosis; 3. conventional occipital expansion for syndromic craniosynostosis.

Conclusions: The risk of a second intracranial correction for insufficient outcome of skull shape or for raised ICP is related to type of synostosis and type of initial surgical technique. Particularly multisutural and syndromic craniosynostosis are more likely to require repeat surgery for these indications. Concerning initial technique, biparietal outfracturing does not correct sagittal synostosis sufficiently, stripcraniectomy with helmet therapy appears to undercorrect unicoronal, multisutural and syndromic synostosis, and conventional occipital expansion for multisutural and syndromic synostosis has poorer outcome than occipital expansion with distraction.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bjps.2020.10.049DOI Listing
November 2020

Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion.

Plast Reconstr Surg Glob Open 2020 Oct 11;8(10):e3204. Epub 2020 Apr 11.

Department of Plastic and Reconstructive and Hand Surgery, Erasmus Medical Center, Rotterdam, the Netherlands.

Background: Episodes of intracranial hypertension are associated with reductions in cerebral cortical thickness (CT) in syndromic craniosynostosis. Here we focus on Crouzon-Pfeiffer syndrome patients to measure CT and evaluate associations with type of primary cranial vault expansion and synostosis pattern.

Methods: Records from 34 Crouzon-Pfeiffer patients were reviewed along with MRI data on CT and intracranial volume to examine associations. Patients were grouped according to initial cranial vault expansion (frontal/occipital). Data were analyzed by multiple linear regression controlled for age and brain volume to determine an association between global/lobar CT and vault expansion type. Synostosis pattern effect sizes on global/lobar CT were calculated as secondary outcomes.

Results: Occipital expansion patients demonstrated 0.02 mm thicker cortex globally ( = 0.81) with regional findings, including: thicker cortex in frontal (0.02 mm, = 0.77), parietal (0.06 mm, = 0.44) and occipital (0.04 mm, = 0.54) regions; and thinner cortex in temporal (-0.03 mm, = 0.69), cingulate (-0.04 mm, = 0.785), and, insula (-0.09 mm, = 0.51) regions. Greatest effect sizes were observed between left lambdoid synostosis and the right cingulate (d = -1.00) and right lambdoid synostosis and the left cingulate ( = -1.23). Left and right coronal synostosis yielded effect sizes of = -0.56 and = -0.42 on respective frontal lobes.

Conclusions: Both frontal and occipital primary cranial vault expansions correlate to similar regional CT in Crouzon-Pfeiffer patients. Lambdoid synostosis appears to be associated with cortical thinning, particularly in the cingulate gyri.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/GOX.0000000000003204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7647527PMC
October 2020

Updated Guideline on Treatment and Management of Craniosynostosis.

J Craniofac Surg 2021 Jan-Feb 01;32(1):371-450

Chair of the working group Guideline Craniosynostosis, Department Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000007035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769187PMC
November 2020

Posterior Distraction Using Springs in Syndromic and Multisuture Craniosynostosis: Improving the Technique.

J Craniofac Surg 2020 Oct;31(7):2095-2096

Department of Pediatric Neurosurgery, Erasmus Medical Center, Rotterdam, the Netherlands.

Introduction: Posterior distraction is the preferred surgical treatment for particularly Apert and Crouzon syndrome in most craniofacial centers, using either external distractors or springs. The authors prefer the use of springs and have adapted their technique to further improve outcomes.

Methods: All patients who were treated with the adapted technique for occipital expansion using springs were included. The most significant adaption that the authors introduced in 2017 is using a bony hinge at the top of the vault instead of at the caudal edge of the occiput.

Results: A total of 8 posterior expansions with springs were performed. No complications occurred and the springs were also successfully applied in cases with extremely thin bone. If indicated, a simultaneous foramen magnum decompression was performed and this was easier to combine with a hinge at the top of the vault.

Conclusions: Posterior distraction with springs is a safe and effective procedure and allows a simultaneous foramen magnum decompression. Planning the hinge at the vault allows intracranial volume gain at the site of the posterior skull base.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000006882DOI Listing
October 2020

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Genet Med 2020 Sep 5;22(9):1498-1506. Epub 2020 Jun 5.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism nearBMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of craniosynostosis, evaluated the impact of different missense variants on SMAD6 function, and tested independently whether rs1884302 genotype significantly modifies the phenotype.

Methods: We performed resequencing of SMAD6 in 795 unsolved patients with any type of craniosynostosis and genotyped rs1884302 in SMAD6-positive individuals and relatives. We examined the inhibitory activity and stability of SMAD6 missense variants.

Results: We found 18 (2.3%) different rare damaging SMAD6 variants, with the highest prevalence in metopic synostosis (5.8%) and an 18.3-fold enrichment of loss-of-function variants comparedwith gnomAD data (P < 10). Combined with eight additional variants, ≥20/26 were transmitted from an unaffected parent but rs1884302 genotype did not predict phenotype.

Conclusion: Pathogenic SMAD6 variants substantially increase the risk of both nonsyndromic and syndromic presentations of craniosynostosis, especially metopic synostosis. Functional analysis is important to evaluate missense variants. Genotyping of rs1884302 is not clinically useful. Mechanisms to explain the remarkable diversity of phenotypes associated with SMAD6 variants remain obscure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0817-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462747PMC
September 2020

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Front Immunol 2020 15;11:614. Epub 2020 Apr 15.

Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.

Genetic tests for primary immunodeficiency disorders (PIDs) are expensive, time-consuming, and not easily accessible in developing countries. Therefore, we studied the feasibility of a customized single nucleotide variant (SNV) microarray that we developed to detect disease-causing variants and copy number variation (CNV) in patients with PIDs for only 40 Euros. Probes were custom-designed to genotype 9,415 variants of 277 PID-related genes, and were added to the genome-wide Illumina Global Screening Array (GSA). Data analysis of GSA was performed using Illumina GenomeStudio 2.0, Biodiscovery Nexus 10.0, and R-3.4.4 software. Validation of genotype calling was performed by comparing the GSA with whole-genome sequencing (WGS) data of 56 non-PID controls. DNA samples of 95 clinically diagnosed PID patients, of which 60 patients (63%) had a genetically established diagnosis (by Next-Generation Sequencing (NGS) PID panels or Sanger sequencing), were analyzed to test the performance of the GSA. The additional SNVs detected by GSA were validated by Sanger sequencing. Genotype calling of the customized array had an accuracy rate of 99.7%. The sensitivity for detecting rare PID variants was high (87%). The single sample replication in two runs was high (94.9%). The customized GSA was able to generate a genetic diagnosis in 37 out of 95 patients (39%). These 37 patients included 29 patients in whom the genetic variants were confirmed by conventional methods (26 patients by SNV and 3 by CNV analysis), while in 8 patients a new genetic diagnosis was established (6 patients by SNV and 2 patients suspected for leukemia by CNV analysis). Twenty-eight patients could not be detected due to the limited coverage of the custom probes. However, the diagnostic yield can potentially be increased when newly updated variants are added. Our robust customized GSA seems to be a promising first-line rapid screening tool for PIDs at an affordable price, which opens opportunities for low-cost genetic testing in developing countries. The technique is scalable, allows numerous new genetic variants to be added, and offers the potential for genetic testing not only in PIDs, but also in many other genetic diseases.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2020.00614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179678PMC
April 2020

Intracranial hypertension and cortical thickness in syndromic craniosynostosis.

Dev Med Child Neurol 2020 07 14;62(7):799-805. Epub 2020 Feb 14.

Department of Plastic and Reconstructive Surgery, Erasmus Medical Center, Rotterdam, the Netherlands.

Aim: To evaluate the impact of risk factors for intracranial hypertension (ICH) on cerebral cortex thickness in syndromic craniosynostosis.

Method: ICH risk factors including papilloedema, hydrocephalus, obstructive sleep apnea (OSA), cerebellar tonsillar position, occipitofrontal circumference (OFC) curve deflection, age, and sex were collected from the records of patients with syndromic craniosynostosis (Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen syndromes) and imaging. Magnetic resonance images were analysed and exported for statistical analysis. A linear mixed model was developed to determine correlations with cerebral cortex thickness changes.

Results: In total, 171 scans from 107 patients (83 males, 88 females [including repeated scans], mean age 8y 10mo, range 1y 1mo-34y, SD 5y 9mo) were evaluated. Mean cortical thickness in this cohort was 2.78mm (SD 0.17). Previous findings of papilloedema (p=0.036) and of hydrocephalus (p=0.007) were independently associated with cortical thinning. Cortical thickness did not vary significantly by sex (p=0.534), syndrome (p=0.896), OSA (p=0.464), OFC (p=0.375), or tonsillar position (p=0.682).

Interpretation: Detection of papilloedema or hydrocephalus in syndromic craniosynostosis is associated with significant changes in cortical thickness, supporting the need for preventative rather than reactive treatment strategies.

What This Paper Adds: Papilloedema is associated with thinning of the cerebral cortex in syndromic craniosynostosis, independently of hydrocephalus.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14487DOI Listing
July 2020

Dural sinus volume in children with syndromic craniosynostosis and intracranial hypertension.

J Neurosurg Pediatr 2020 Jan 31:1-8. Epub 2020 Jan 31.

Departments of1Plastic and Reconstructive Surgery, and Hand Surgery.

Objective: Intracranial hypertension is a major concern in children with syndromic craniosynostosis (sCS). Cerebral venous hypertension caused by cerebral venous outflow obstruction is believed to contribute to intracranial hypertension. The authors therefore hypothesized that cerebral venous volume would be increased in those children with sCS and intracranial hypertension.

Methods: In a case series of 105 children with sCS, of whom 32 had intracranial hypertension, cerebral MRI techniques were used to quantify the volume of the superior sagittal sinus, straight sinus (StrS), and both transverse sinuses.

Results: Linear regression showed that total cerebral venous volume increased by 580.8 mm3 per cm increase in occipitofrontal head circumference (p < 0.001). No significant difference was found between the intracranial hypertension group and the nonintracranial hypertension group (p = 0.470). Multivariate ANOVA showed increased StrS volume (as a proportion of total volume) in the intracranial hypertension group (8.5% vs 5.1% in the nonintracranial hypertension group, p < 0.001). Multivariate logistic regression showed that a 100-mm3 increase in StrS volume is associated with increased odds of having intracranial hypertension by 60% (OR 1.60, 95% CI 1.24-2.08).

Conclusions: Although intracranial hypertension was not associated with total cerebral venous volume increase, it was associated with an isolated increase in StrS volume. Hence, it is unlikely that general cerebral venous outflow obstruction is the mechanism of intracranial hypertension in sCS. Rather, these findings indicate either a central cerebral vulnerability to intracranial hypertension or a mechanism involving venous blood redistribution.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2019.12.PEDS19562DOI Listing
January 2020

Cerebral blood flow in children with syndromic craniosynostosis: cohort arterial spin labeling studies.

J Neurosurg Pediatr 2019 Dec 27:1-11. Epub 2019 Dec 27.

1Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center.

Objective: In comparison with the general population, children with syndromic craniosynostosis (sCS) have abnormal cerebral venous anatomy and are more likely to develop intracranial hypertension. To date, little is known about the postnatal development change in cerebral blood flow (CBF) in sCS. The aim of this study was to determine CBF in patients with sCS, and compare findings with control subjects.

Methods: A prospective cohort study of patients with sCS using MRI and arterial spin labeling (ASL) determined regional CBF patterns in comparison with a convenience sample of control subjects with identical MRI/ASL assessments in whom the imaging showed no cerebral/neurological pathology. Patients with SCS and control subjects were stratified into four age categories and compared using CBF measurements from four brain lobes, the cerebellum, supratentorial cortex, and white matter. In a subgroup of patients with sCS the authors also compared longitudinal pre- to postoperative CBF changes.

Results: Seventy-six patients with sCS (35 female [46.1%] and 41 male [53.9%]), with a mean age of 4.5 years (range 0.2-19.2 years), were compared with 86 control subjects (38 female [44.2%] and 48 male [55.8%]), with a mean age of 6.4 years (range 0.1-17.8 years). Untreated sCS patients < 1 year old had lower CBF than control subjects. In older age categories, CBF normalized to values observed in controls. Graphical analyses of CBF by age showed that the normally expected peak in CBF during childhood, noted at 4 years of age in control subjects, occurred at 5-6 years of age in patients with sCS. Patients with longitudinal pre- to postoperative CBF measurements showed significant increases in CBF after surgery.

Conclusions: Untreated patients with sCS < 1 year old have lower CBF than control subjects. Following vault expansion, and with age, CBF in these patients normalizes to that of control subjects, but the usual physiological peak in CBF in childhood occurs later than expected.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2019.10.PEDS19150DOI Listing
December 2019

The Cutting Edge of Headache Surgery: A Systematic Review on the Value of Extracranial Surgery in the Treatment of Chronic Headache.

Plast Reconstr Surg 2019 12;144(6):1431-1448

From the Department of Plastic, Reconstructive, and Hand Surgery, Erasmus Medical Center; and MSA Plastic Surgery.

Background: Migraine is a debilitating neurologic condition, with a large socioeconomic impact. There is a subgroup of patients that does not adequately respond to pharmacologic management and may have underlying neuralgia. Surgical decompression of extracranial sensory nerves has been proposed as an alternative therapy. The aim of this article is to review the evidence for the surgical treatment of neuralgias.

Methods: A systematic review was conducted to study the efficacy of decompression of extracranial sensory nerves as a treatment for neuralgia. Clinical studies were included that studied patients, aged 18 years or older, diagnosed with any definition of headache and were treated with extracranial nerve decompression surgery. Outcome parameters included intensity (on a 10-point scale), duration (in days), and frequency (of headaches per month).

Results: Thirty-eight articles were found describing extracranial nerve decompression in patients with headaches. Postoperative decrease in headache intensity ranged from 2 to 8.2, reduction of duration ranged from 0.04 to 1.04 days, and reduction in frequency ranged between 4 and 14.8 headaches per month. Total elimination of symptoms was achieved in 8.3 to 83 percent of cases. A detailed summary of the outcome of single-site decompression is described. Statistical pooling and therefore meta-analysis was not possible, because of articles having the same surgeon and an overlapping patient database.

Conclusions: Nerve decompression surgery is an effective way of treating headaches in a specific population of patients with neuralgia. Although a meta-analysis of the current data was not possible, the extracranial decompression of peripheral head and neck sensory nerves has a high success rate.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006270DOI Listing
December 2019

Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis.

Plast Reconstr Surg Glob Open 2019 Sep 10;7(9):e2419. Epub 2019 Sep 10.

Department of Plastic and Reconstructive Surgery, and Hand Surgery, Erasmus MC, Rotterdam, the Netherlands.

Children with syndromic craniosynostosis (sCS) often suffer from obstructive sleep apnea (OSA) and intracranial hypertension (ICH). Both OSA and ICH might disrupt sleep architecture. However, it is unclear how surgically treating OSA or ICH affects sleep architecture. The aim of this study was twofold: to explore the usefulness of sleep architecture analysis in detecting disturbed sleep and to determine whether surgical treatment can improve it.

Methods: Eighty-three children with sCS and 35 control subjects, who had undergone a polysomnography (PSG), were included. Linear-mixed models showed the effects of OSA and ICH on sleep architecture parameters. In a subset of 19 patients, linear regression models illustrated the effects of OSA-indicated and ICH-indicated surgery on pre-to-postoperative changes.

Results: An increase in obstructive-apnea/hypopnea index (oAHI) was significantly associated with an increase in N2-sleep, arousal index, and respiratory-arousal index and a decrease in REM-sleep, N3-sleep, sleep efficiency, and sleep quality. ICH and having sCS were not related to any change in sleep architecture. OSA-indicated surgery significantly increased the total sleep time and sleep efficiency and decreased the arousal index and respiratory-arousal index. ICH-indicated surgery significantly decreased REM-sleep, N1-sleep, sleep efficiency, and sleep quality.

Conclusions: For routine detection of disturbed sleep in individual subjects, PSG-assessed sleep architecture is currently not useful. OSA does disrupt sleep architecture, but ICH does not. OSA-indicated surgery improves sleep architecture, which stresses the importance of treating OSA to assure adequate sleep. ICH-indicated surgery affects sleep architecture, although it is not clear whether this is a positive or negative effect.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/GOX.0000000000002419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6799402PMC
September 2019

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.

J Neurosurg Pediatr 2019 Jul 19:1-8. Epub 2019 Jul 19.

Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.

Objective: The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.

Methods: This was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.

Results: The study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3-24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.

Conclusions: Patients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2019.5.PEDS1969DOI Listing
July 2019

Papilledema in unicoronal synostosis: a rare finding.

J Neurosurg Pediatr 2019 May 17;24(2):139-144. Epub 2019 May 17.

Departments of1Plastic and Reconstructive Surgery.

Objective: Unicoronal synostosis results in frontal plagiocephaly and is preferably treated before the patient is 1 year of age to prevent intracranial hypertension (ICH). However, data on the prevalence of ICH in these patients is currently lacking. This study aimed to establish the prevalence of preoperative and postoperative signs of ICH in a large cohort of patients with unicoronal synostosis and to test whether there is a correlation between papilledema and occipitofrontal head circumference (OFC) curve stagnation in unicoronal synostosis.

Methods: The authors included all patients with unicoronal synostosis treated before 2 years of age at a single center between 2003 and 2013. The presence of ICH was evaluated by routine fundoscopy. The OFC growth curve was analyzed for deflection and in relationship to signs of ICH.

Results: In total, 104 patients were included in this study, 84 (81%) of whom were considered to have nonsyndromic unicoronal synostosis. Preoperatively, none of the patients had papilledema as determined by fundoscopy (mean age at surgery 11 months). Postoperatively, 5% of patients with syndromic synostosis and 3% of those with nonsyndromic synostosis had papilledema, and this was confirmed by optical coherence tomography. Raised intracranial pressure was confirmed in 1 patient with syndromic unicoronal synostosis. Six of 78 patients had OFC stagnation, which was not significantly correlated to papilledema (p = 0.22). One child with syndromic unicoronal synostosis required repeated surgery for ICH (0.96%).

Conclusions: Papilledema was not found in patients with unicoronal synostosis when they underwent surgery before the age of 1 year and was also very rare during follow-up. There was no relationship between papilledema and OFC stagnation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2019.3.PEDS18624DOI Listing
May 2019

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Hum Mol Genet 2019 Aug;28(15):2501-2513

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleosome remodelling and deacetylation complex (NuRD) and polycomb-related complex 2 (PRC2) through the invariant proteins RBBP4 and RBBP7. The p.R3S substitution occurs within a conserved amino-terminal motif (RRKQxxP) of BCL11B and reduces interaction with both transcriptional complexes. Equilibrium binding studies and molecular dynamics simulations show that the p.R3S substitution disrupts ionic coordination between BCL11B and the RBBP4-MTA1 complex, a subassembly of the NuRD complex, and increases the conformational flexibility of Arg-4, Lys-5 and Gln-6 of BCL11B. These alterations collectively reduce the affinity of BCL11B p.R3S for the RBBP4-MTA1 complex by nearly an order of magnitude. We generated a mouse model of the BCL11B p.R3S substitution using a CRISPR-Cas9-based approach, and we report herein that these mice exhibit craniosynostosis of the coronal suture, as well as other cranial sutures. This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6644156PMC
August 2019

Genetic Causes of Craniosynostosis: An Update.

Mol Syndromol 2019 Feb 15;10(1-2):6-23. Epub 2018 Aug 15.

Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422124PMC
February 2019

Headache in Postoperative Isolated Sagittal Synostosis.

Plast Reconstr Surg 2019 Apr;143(4):798e-805e

From the Department of Plastic and Reconstructive Surgery and Hand Surgery and Department of Neurosurgery, Dutch Craniofacial Centre, Erasmus University Medical Center.

Background: This study investigates the relationship between headache and the occurrence of signs associated with intracranial hypertension such as ophthalmic signs, restricted skull growth, and a vertex bulge in children who were operated on for sagittal synostosis.

Methods: A total of 94 patients (aged 6 to 18 years) with sagittal synostosis were asked to indicate their headache frequency. Based on their age at referral, the patients had undergone either frontobiparietal remodeling or an extended strip craniotomy. Data on funduscopy, optical coherence tomography, occipitofrontal head circumference, and presence of vertex bulge on radiography were collected retrospectively.

Results: Univariate analysis showed that extended strip craniotomy, the occurrence of ophthalmic signs, and a smaller occipitofrontal head circumference at last follow-up were related to more frequent headaches (p = 0.01, p = 0.04, and p < 0.01, respectively). On multivariate analysis, only type of surgery and occipitofrontal head circumference at last follow-up remained significant predictors (p = 0.04 and p < 0.01, respectively).

Conclusions: Although the reported rate of frequent headaches in this study is within the norm reported for the normal population, this study shows that after correction for sagittal craniosynostosis, frequent headaches are independently related to type of surgery and to occipitofrontal head circumference at last follow-up. Headaches in the sagittal craniosynostosis population may be related to papilledema and/or an increased total retinal thickness. Therefore, the authors recommend that occipitofrontal head circumference be routinely measured and that patients be asked about the occurrence and frequency of headaches during their checkup at the clinic.

Clinical Question/level Of Evidence: Therapeutic, III.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000005481DOI Listing
April 2019

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Am J Hum Genet 2019 04 21;104(4):709-720. Epub 2019 Mar 21.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address:

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with cyclin C, MED12 or MED12L, and MED13 or MED13L. Mutations in MED12, MED13, and MED13L were previously identified in syndromic developmental disorders with overlapping phenotypes. Here, we report CDK8 mutations (located at 13q12.13) that cause a phenotypically related disorder. Using whole-exome or whole-genome sequencing, and by international collaboration, we identified eight different heterozygous missense CDK8 substitutions, including 10 shown to have arisen de novo, in 12 unrelated subjects; a recurrent mutation, c.185C>T (p.Ser62Leu), was present in five individuals. All predicted substitutions localize to the ATP-binding pocket of the kinase domain. Affected individuals have overlapping phenotypes characterized by hypotonia, mild to moderate intellectual disability, behavioral disorders, and variable facial dysmorphism. Congenital heart disease occurred in six subjects; additional features present in multiple individuals included agenesis of the corpus callosum, ano-rectal malformations, seizures, and hearing or visual impairments. To evaluate the functional impact of the mutations, we measured phosphorylation at STAT1-Ser727, a known CDK8 substrate, in a CDK8 and CDK19 CRISPR double-knockout cell line transfected with wild-type (WT) or mutant CDK8 constructs. These experiments demonstrated a reduction in STAT1 phosphorylation by all mutants, in most cases to a similar extent as in a kinase-dead control. We conclude that missense mutations in CDK8 cause a developmental disorder that has phenotypic similarity to syndromes associated with mutations in other subunits of the Mediator kinase module, indicating probable overlap in pathogenic mechanisms.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451695PMC
April 2019

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.

J Inherit Metab Dis 2018 11 6;41(6):1247-1258. Epub 2018 Aug 6.

Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands.

Background: The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. The objective of this study was to determine the incidence of craniosynostosis in the different mucopolysaccharidosis (MPS) types and its clinical consequences.

Methods: In a prospective cohort study spanning 10 years, skull imaging and clinical evaluations were performed in 47 MPS patients (type I, II, VI, and VII). A total of 215 radiographs of the skull were analyzed. The presence and type of craniosynostosis, the sutures involved, progression over time, skull shape, head circumference, fundoscopy, and ventriculoperitoneal shunt (VPS) placement data were evaluated.

Results: Craniosynostosis of at least one suture was present in 77% of all 47 MPS patients (≤ 6 years of age in 40% of all patients). In 32% of all MPS patients, premature closure of all sutures was seen (≤ 6 years of age in 13% of all patients). All patients with early closure had a more severe MPS phenotype, both in the neuronopathic (MPS I, II) and non-neuronopathic (MPS VI) patient groups. Because of symptomatic increased intracranial pressure (ICP), a VPS was placed in six patients, with craniosynostosis as a likely or certain causative factor for the increased pressure in four patients. One patient underwent cranial vault expansion because of severe craniosynostosis.

Conclusions: Craniosynostosis occurs in the majority of MPS patients. Since the clinical consequences can be severe and surgical intervention is possible, skull growth and signs and symptoms of increased ICP should be monitored in both neuronopathic and non-neuronopathic patients with MPS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0212-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326980PMC
November 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea: significance of identifying respiratory arrhythmia during sleep.

Sleep Med 2018 05 14;45:1-6. Epub 2017 Nov 14.

Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Pediatric Intensive Care Unit, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.

Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals - such as those with upper airway resistance syndrome (UARS) - do not have abnormalities on polysomnography (PSG). In this study we have assessed whether assessment of respiratory arrhythmia (RA) and heart rate variability (HRV) analysis helps in management of children with syndromic craniosynostosis and none-to-mild obstructive sleep apnea (OSA).

Methods: Prospective cohort study in children aged 1-18 years old with syndromic craniosynostosis. Children were selected for HRV analysis from the ECG if their obstructive apnea-hypopnea index (oAHI) was between zero and five per hour (ie, oAHI ≤5/hour). Subjects were divided into groups based on the presence or absence of respiratory arrhythmia (with or without RA respectively) using the electrocardiogram (ECG). The main analysis included studying the relationship between RA and HRV, symptoms, interventions, and sleep architecture.

Results: We identified 42 patients with, at worst, mild OSA. We found higher parasympathetic control and higher total power in children with RA during the non-rapid eye movement (non-REM) sleep. Children with RA also have a relatively higher percentage of paradoxical breathing during non-REM sleep (P = 0.042). Intracranial hypertension was distributed equally between groups. Last, RA patients showed increased parasympathetic activity that further increased in non-REM sleep.

Conclusion: In syndromic craniosynostosis cases with SDB and PSG showing oAHI ≤5/hour, the presence of RA may indicate subsequent need for treatment interventions, and a trend toward higher occurrence of clinical symptoms. ECG analyses of HRV variables in subjects with RA demonstrate increased parasympathetic activity and total power. Such findings may add to the diagnosis of apparently asymptomatic children.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.sleep.2017.09.036DOI Listing
May 2018

Pilot study of intracranial venous physiology in craniosynostosis.

J Neurosurg Pediatr 2018 06 6;21(6):626-631. Epub 2018 Apr 6.

6Departments of Neurology and Anesthesia (Pediatrics), Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts.

OBJECTIVE In addition to craniocerebral disproportion, other factors, such as Chiari malformation type I, obstructive sleep apnea, and venous outflow obstruction, are considered to have a role in the occurrence of intracranial hypertension in craniosynostosis. This pilot study examined cerebral venous flow velocity to better characterize the complex intracranial venous physiology of craniosynostosis. METHODS The authors performed a prospective cohort study of craniosynostosis patients (n = 34) referred to a single national (tertiary) craniofacial unit. Controls (n = 28) consisted of children who were referred to the unit's outpatient clinic and did not have craniosynostosis. Transfontanelle ultrasound scans with venous Doppler flow velocity assessment were performed at the first outpatient clinic visit and after each surgery, if applicable. Mean venous blood flow velocities of the internal cerebral vein (ICV) and the superior sagittal sinus (SSS) were recorded and blood flow waveform was scored. RESULTS Preoperatively, SSS was decreased in craniosynostosis patients compared with controls (7.57 vs 11.31 cm/sec, p = 0.009). ICV did not differ significantly between patients and controls. Postoperatively, SSS increased significantly (7.99 vs 10.66 cm/sec, p = 0.023). Blood flow waveform analyses did not differ significantly between patients and controls. CONCLUSIONS Premature closure of cranial sutures was associated with decreased SSS but not ICV; indicating an effect on the superficial rather than deep venous drainage. Further Doppler ultrasound studies are needed to test the hypothesis that at an early stage of craniosynostosis pathology SSS, but not pulsatility, is abnormal, and that abnormality in both SSS and the superficial venous waveform reflect a more advanced stage of evolution in suture closure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2018.1.PEDS17480DOI Listing
June 2018

Perinatal complications in patients with unisutural craniosynostosis: An international multicentre retrospective cohort study.

J Craniomaxillofac Surg 2017 Nov 19;45(11):1809-1814. Epub 2017 Aug 19.

University of Gothenburg, The Sahlgrenska Academy, Institute of Clinical Sciences, Department of Plastic Surgery, Sahlgrenska University Hospital, Gröna Straket 8, 413 45, Goteborg, Sweden.

Purpose: Craniosynostosis may lead to hampered fetal head molding and birth complications. To study the interaction between single suture craniosynostosis and delivery complications, an international, multicentre, retrospective cohort study was performed.

Materials And Methods: All infants born between 2006 and 2012 in the Netherlands and Sweden with sagittal or metopic suture synostosis were included. All births were included as a reference population. The primary outcome measure was rate of medically assisted labor. The secondary outcomes included method of conception, term of birth and fetal position.

Results: We included 152 trigonocephaly patients, 272 scaphocephaly patients and 1.954.141 controls. A higher rate of assisted reproductive technology (ART) was found in patients with trigonocephaly (13%) and scaphocephaly (7%) compared to controls (3%, p < 0.001). Scaphocephaly resulted in more postterm births (8% vs 4%, p < 0.001). Trigonocephaly patients showed more preterm births (11% vs 6%, p < 0.001), breech position was more frequent (10% vs 4%, p = 0.003) and labor was more often induced. Rate of assisted delivery, including cesarean section, was significantly higher in both patient groups.

Conclusions: Scaphocephaly leads to more postterm births and an increased rate of cesarean sections. Trigonocephaly is related to ART, and in addition higher rates of breech position and cesarean section are found. Prenatal detection of single suture craniosynostosis could improve perinatal care.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcms.2017.08.012DOI Listing
November 2017

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Eur J Hum Genet 2017 10 26;25(10):1126-1133. Epub 2017 Jul 26.

Clinical Genetics Department, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.

Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p.?)) and a 34 bp promoter deletion (hg19 chr18:g.77748581_77748614del (type 1Δ) in the proband). Subsequently, we tested a cohort of 19 individuals with (mild) features of BMKS and 17 individuals with isolated choanal atresia for causative variants in TXNL4A by dideoxy-sequence analysis. In one individual with BMKS unrelated to the first family, we identified the identical compound heterozygous variants. In an individual with isolated choanal atresia, we found homozygosity for the same type 1Δ promoter deletion, whilst in two cousins from a family with choanal atresia and other minor anomalies we found homozygosity for a different deletion within the promoter (hg19 chr18: g.77748604_77748637del (type 2Δ)). Hence, we identified causative recessive variants in TXNL4A in two individuals with BMKS as well as in three individuals (from two families) with isolated choanal atresia.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602009PMC
October 2017

The new opt-out Dutch National Breast Implant Registry - Lessons learnt from the road to implementation.

J Plast Reconstr Aesthet Surg 2017 Oct 12;70(10):1354-1360. Epub 2017 May 12.

Department of Plastic and Reconstructive Surgery, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands. Electronic address:

An estimated 1-3% of all women in the Netherlands carry breast implants. Since the introduction five decades ago, problems with a variety of breast implants have emerged with direct consequences for the patients' health. Plastic surgeons worldwide reacted through campaigning for auditing on long-term implant quality, surgeon performance, and institutional outcomes in implant registries. Especially, the PIP implant scandal of 2010 demonstrated the paucity of epidemiological data and uncovered a weakness in our ability to even 'track and trace' patients. In addition, a recent report of the Dutch Institute of National Health showed a lack of compliance of 100% of breast implant producers to CE requirements. These arguments stress the need for an independent implant registry. Insufficient capture rates or dependence from the implant producers made the variety of national and international patient registries unreliable. The Dutch Breast Implant Registry (DBIR) is unique because it is an opt-out registry without the need for informed consent and thus a high capture rate. Furthermore, an estimated 95% of breast implants are implanted by board-certified plastic surgeons. Funding was received from a non-governmental organisation to increase the quality of health care in the Netherlands, and maintenance is gathered by 25 euros per implant inserted. This article describes the way the Dutch have set up their system, with special attention to the well-known hurdles of starting a patient registry. Examples include: funding, medical ethical issues, opt out system, benchmarking, quality assurance as well as governance and collaboration. The Dutch consider their experience and data shareware for others to be used globally to the benefit of patient safety and quality improvement.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bjps.2017.04.003DOI Listing
October 2017

Reply: Very Low Prevalence of Intracranial Hypertension in Trigonocephaly.

Plast Reconstr Surg 2017 09;140(3):516e-517e

Department of Plastic and Reconstructive Surgery and Handsurgery, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000003637DOI Listing
September 2017

Prenatal ultrasound parameters in single-suture craniosynostosis.

J Matern Fetal Neonatal Med 2018 Aug 14;31(15):2050-2057. Epub 2017 Jun 14.

b Department of Obstetrics and Gynecology, Division of Obstetrics and Prenatal Medicine , Erasmus MC , Rotterdam , The Netherlands.

Introduction: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters.

Materials And Methods: We retrospectively analyzed data of the 20-week anomaly scan in trigonocephaly patients (n = 41), scaphocephaly patients (n = 41), and matched controls (n = 82). We measured six different cranial dimensions, including head circumference, biparietal diameter, and occipito-frontal diameter, defining the cephalic index as the ratio between biparietal and occipito-frontal diameter.

Results: Prenatal biometric measurements did not differ significantly between trigonocephaly patients and controls. Although significantly lower in scaphocephaly patients (0.76 versus 0.79; p = .000), the cephalic index by itself is not appropriate for screening at 20 weeks of gestation. Longitudinal analysis suggests that a deflection in BPD curve is found in scaphocephaly patients, starting at 20 weeks of gestation.

Conclusions: Prenatal biometric measurements do not differ significantly between trigonocephaly patients and controls. The CI is lower in scaphocephaly patients. A deflection in BPD curve should be followed by 3 D imaging of the cranial sutures.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/14767058.2017.1335706DOI Listing
August 2018

Very Low Prevalence of Intracranial Hypertension in Trigonocephaly.

Plast Reconstr Surg 2017 Jan;139(1):97e-104e

Rotterdam, The Netherlands.

Background: Trigonocephaly is caused by metopic suture synostosis. It is treated by fronto-orbital remodeling, not only to correct the deformity but also to prevent intracranial hypertension, the reported prevalence in trigonocephaly of which ranges from 0 to 33 percent. To support treatment analysis and the design of a treatment protocol for intracranial hypertension in these patients, the authors wished to more accurately quantify the prevalence of preoperative and postoperative intracranial hypertension in a large patient cohort.

Methods: The authors included all trigonocephaly patients born between 2001 and 2013 who had all been operated on at a single center. During follow-up, the presence of intracranial hypertension was evaluated by funduscopy, and occipitofrontal head circumference was measured. The occipitofrontal head circumference curve was analyzed and its relation to intracranial hypertension assessed.

Results: In total, 262 patients with trigonocephaly were included. Before surgery, 1.9 percent of them had intracranial hypertension; after surgery, 1.5 percent did (mean age at last follow-up, 4.9 years). Sixteen of 176 patients (9 percent) had occipitofrontal head circumference curve stagnation, which was significantly related to intracranial hypertension (p = 0.001, Fisher's exact test).

Conclusions: Intracranial hypertension occurs only sporadically in patients with metopic suture synostosis. Occipitofrontal head circumference measurement should take a prominent place in the postoperative follow-up of metopic suture synostosis patients; stagnation of the occipitofrontal head circumference requires additional screening for intracranial hypertension.

Clinical Question/level Of Evidence: Therapeutic, IV.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000002866DOI Listing
January 2017