
Irene M J MathijssenErasmus MC | Erasmus MC · Department of Plastic and Reconstructive Surgery
Irene M J Mathijssen
Professor
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277
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Introduction
Skills and Expertise
Publications
Publications (277)
Background and purpose
Craniosynostoses are rare congenital craniofacial malformations, variably affected by hearing loss, often requiring repeated CT examinations to assess skull or temporal bone (TB) abnormalities. In order to avoid radiation exposure in these young patients, efforts are made to assess the skull abnormalities on MR bone imaging s...
There is considerable variability in the management of common orofacial clefts across Europe, reflecting differing opinions on optimal treatments. An updated overview of treatment protocols for orofacial clefts across 26 expert centres in the European Reference Network CRANIO is presented here. A structured questionnaire was distributed to map the...
Purpose
Trigonocephaly is associated with suboptimal visual outcomes in young children. However, the presence of orthoptic abnormalities after completed visual development remains unknown. The purpose of this study is to assess the prevalence of orthoptic abnormalities in trigonocephaly patients, after completed visual development.
Methods
A retro...
Patient-Reported Outcome Measures (PROMs), such as the CLEFT-Q, have become essential for outcomes in patients with CL/P. Normative values of the CLEFT-Q for non-CL/P peers have not yet been established. This study aims to establish normative values for the CLEFT-Q in the general Dutch population. Dutch nationals aged 16-24 years without CL/P were...
OBJECTIVE
The exact association between the frequently present anomalous intracranial venous vasculature, emissary collaterals, ventriculomegaly, and increased intracranial pressure (ICP) in children with Apert and Crouzon syndromes remains an enigma. This study aimed to evaluate the association between the aberrant venous system and ventricle size...
Background
The aim of this study is to describe and compare head shape in surgically and conservatively treated patients using 3D photogrammetry.
Methods
A retrospective review (2017-2020) of consecutive patients with isolated metopic synostosis based on 3D photogrammetry was conducted at the age of 4 years old. Images were aligned using a healthy...
Craniotubular Dysplasia Ikegawa type is a sclerosing bone disorder recently identified in five patients from four independent Indian families. It is caused by homozygous or compound heterozygous mutations in TMEM53. Deficient TMEM53 leads to overactive BMP signaling which promotes bone formation. Here, we present another three siblings with introni...
This article describes the process of the development of a research intelligence tool to analyse rare disease research in the Netherlands. To the best of our knowledge, this is the first tool that can surface and organise scientific output on rare diseases using established annotation and natural language processing mechanisms. We focus on the trac...
Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment practices. To overcome this scarcity, European experts from ERN CRANIO collaborated to develop a c...
The European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders aims to improve care for patients with such afflictions, including cleft lip and palate (CL/P) across Europe. Cleft treatment remains varied throughout European centers, inhibiting meaningful comparison of treatment outcomes. To overcome these issues, a Eu...
Craniosynostosis, a congenital condition characterized by the premature fusion of cranial sutures, necessitates objective methods for evaluating cranial morphology to enhance patient treatment. Current subjective assessments often lead to inconsistent outcomes. This study introduces a novel, quantitative approach to classify craniosynostosis and me...
Objective
This study assesses the level of child-patient satisfaction with the surgical result after scaphocephaly correction and the difference between child-patient and parents' perspectives.
Methods
A questionnaire was sent out to children between 6 and 18 years old with isolated sagittal synostosis, who had undergone either a frontobiparietal...
There is still no unanimous agreement on the optimal surgical
protocol(s) for the treatment of unilateral cleft lip and palate (UCLP), and a huge variety of protocols are employed by cleft centres across the world. The aim of this systematic review and meta-analysis was to compare reported patient outcomes of the Oslo protocol (and modifications) (...
With increasing interest in 3D photogrammetry, diverse methods have been developed for craniofacial shape analysis in craniosynostosis patients. This review provides an overview of these methods and offers recommendations for future studies. A systematic literature search was used to identify publications on 3D photogrammetry analyses in craniosyno...
Study objectives:
We examined the association between pulse transit time (PTT) and obstructive sleep apnea (OSA) in children with syndromic craniosynostosis (SCS), where OSA is a common problem and may cause cardiorespiratory disturbance.
Methods:
Retrospective study of children (age <18 years) with SCS and moderate-to-severe OSA (i.e., obstruct...
Metopic synostosis patients are at risk for neurodevelopmental disorders despite a negligible risk of intracranial hypertension. To gain insight into the underlying pathophysiology of metopic synostosis and associated neurodevelopmental disorders, we aimed to investigate brain volumes of non‐syndromic metopic synostosis patients using preoperative...
Background
Perioperative airway management following midface advancements in children with Apert and Crouzon/Pfeiffer syndrome can be challenging, and protocols often differ. This study examined airway management following midface advancements and postoperative respiratory complications.
Methods
A multicenter, retrospective cohort study was perfor...
Objectives
Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, i...
Craniosynostosis, characterized by premature fusion of one or more cranial sutures, results in a distorted skull shape. Only three studies have assessed facial asymmetry manually in unicoronal synostosis patients. It is therefore important to understand how uni- and bicoronal synostosis affect facial asymmetry with a minimum risk of human bias.
An...
Background/purpose
To evaluate in craniosynostosis: 1) the diagnostic accuracy of fundoscopy and optical coherence tomography (OCT) to detect intracranial hypertension (ICH); 2) the time course of retinal thickness after treatment of ICH; and 3) the relation between high hyperopia (HH) and fundoscopy/OCT scan findings.
Methods
Syndromic, multisutu...
Background
Metopic synostosis patients have a high prevalence of orthoptic anomalies, including hyperopia, astigmatism, and amblyopia. We hypothesized altered orbital anatomy contributes to suboptimal visual outcomes by adversely affecting eye anatomy and growth from early life onward. Therefore, we aimed to investigate eye and orbital anatomy in m...
This study aimed to assess the reliability and agreement of automated head measurements using 3-dimensional (3D) photogrammetry in young children. Specifically, the study evaluated the agreement between manual and automated occipitofrontal circumference (OFC) measurements (n = 264) obtained from 3D images of 188 patients diagnosed with sagittal syn...
Objective
To reflect upon our non-surgical respiratory management by evaluating clinical outcomes regarding airway, feeding, and growth during the first year of life in patients with Robin Sequence.
Design
Prospective study.
Setting
Sophia Children's Hospital, Rotterdam, the Netherlands.
Patients/ Participants
36 patients with Robin Sequence who...
Background
Headaches are the most common complaints among pediatric populations. Determining the cause and appropriate treatment for headaches may be challenging and costly, and the impact of headaches on the lives of patients and their families is not well understood.
Objective
A systematic literature review was conducted to examine what PROMs ar...
The neural crest is a temporary embryonic structure that is composed of a population of multipotent cells that delaminate from the ectoderm by epitheliomesenchymal transformation (► Sect. 5.2). These neural-crest-derived cells or neural crest cells (NCC) contribute to a large number of structures, including the spinal, cranial and autonomic ganglia...
Background:
This study evaluated the health-related quality of life (HR-QoL) in patients with sagittal synostosis (SS), and the influence of frequent headaches and surgical techniques on the HR-QoL.
Method:
Patients with SS aged 8 to 18 years were invited to participate between June 2016 and February 2017. The Child Health Questionnaire was used...
Objective:
A scoping review of literature about mechanisms leading to intracranial hypertension (ICH) in syndromic craniosynostosis (sCS) patients, followed by a narrative synopsis of whether cognitive and behavioral outcome in sCS is more related to genetic origins, rather than the result of ICH.
Methods:
The scoping review comprised of a searc...
Purpose:
Studies previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the pre-osteogenic cells of the cranial sutures. We investigated the role of heterozygous missense and loss-of-function variants in PRRX1 associated with craniosynostosis.
Methods:
Trio-based genome, exome or targeted s...
Background:
The CLEFT-Q, a questionnaire developed and validated specifically for cleft patients, contains 7 'appearance' scales. The ICHOM (International Consortium of Health Outcomes Measurement) has incorporated only some Cleft-Q 'appearance' scales in the Standard Set to minimize burden. This study evaluates which 'appearance' scales provide t...
Objective:
The aim of this study is to compare three surgical interventions to correct sagittal synostosis: frontobiparietal remodeling (FBR), extended strip craniotomy (ESC), and spring assisted correction (SAC), based on 3D photogrammetry and operation characteristics.
Methods:
All patients diagnosed with non-syndromic sagittal synostosis, bor...
Background
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care and its specific manifestations have been developed, but lack integration within routine care. This gui...
The care and treatment of patients with craniosynostosis and the new developments were described for health care professionals involved in this in the guideline "Treatment and Management of Craniosynostosis", which was revised in 2020. A patient version was written based on the professional guideline to make the information accessible to patients a...
Introduction
Neurofibromatosis Type 1 (NF-1) is a genetic disorder that occurs in 1:2500–3000 live births and may involve multiple organs. An uncommon but well-known phenomena is sphenoid dysplasia, which appears in 3–11% of the patients, and may result in significant lowering of the orbit. Understanding the cause and development of this process mi...
Given the high prevalence of OSA in children with syndromic and complex craniosynostosis (SCC) and the consequences of untreated OSA, it is important to assess their nutritional status and growth. Yet, literature regarding growth in children with SCC remain scarce. Therefore, this study aimed to (1) illustrate the growth pattern in SCC, (2) determi...
Objective
Stagnation of skull growth is correlated with papilledema in craniosynostosis. In this retrospective cohort study, we describe the postoperative skull growth after surgical correction for sagittal synostosis and its relation to the development of papilledema.
Methods
Patients with isolated sagittal synostosis at our center between 2005 a...
Purpose
To obtain pediatric normative reference values and determine whether optical coherence tomography (OCT) corresponds better with clinical signs of intracranial hypertension (ICH) compared to the traditional screening method fundoscopy in a large cohort of one type of single suture craniosynostosis.
Methods
Control subjects without optic ner...
Study objectives:
Obstructive sleep apnea (OSA) is seen in up to two-third of the patients with syndromic craniosynostosis. Gold standard to diagnose OSA is the hospital-based polysomnography, although alternatively ambulatory home sleep apnea devices are available. Aim of this study was to assess (1) accuracy of ambulatory sleep studies, (2) clin...
Background:
Multiple pregnancy is a known predisposing factor for sagittal suture synostosis, and intrauterine constraint has been suggested as a potential cause. This study evaluates prenatal images of single and multiple pregnancies of children with sagittal suture synostosis to assess the possible pathogenesis.
Materials and methods:
Prenatal...
Purpose
In 7 to 15-year-old operated syndromic craniosynostosis patients, we have shown the presence of microstructural anomalies in brain white matter by using DTI. To learn more about the cause of these anomalies, the aim of the study is to determine diffusivity values in white matter tracts in non-operated syndromic craniosynostosis patients age...
Adolescents with a visible difference can experience difficult social situations, (e.g., people staring or making unwanted comments) and are at risk for mental health problems. Unfortunately, interventions for adolescents with a visible difference experiencing appearance-related distress are scarce and lack an evidence-base. This study tests the ac...
Purpose: Given the high prevalence of OSA in children with syndromic and complex craniosynostosis (SCC) and the consequences of untreated OSA, it is important to assess their nutritional status and growth. Yet, literature regarding growth in children with SCC remain scarce. Therefore, this study aimed to 1) illustrate the growth pattern in SCC, 2)...
Background
Children with trigonocephaly are at risk for neurodevelopmental disorders. The aim of this study is to investigate white matter properties of the frontal lobes in young, unoperated patients with metopic synostosis as compared to healthy controls using Diffusion Tension Imaging (DTI).
Methods
Preoperative DTI datasets of 46 patients with...
Objectives
To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group.
Material and methods
We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrom...
A visible difference to the face or body may challenge adolescents’ adjustment and engagement in life activities, where some require psychosocial support. However, evidence is limited for whether existing interventions for this adolescent group reduce social or appearance-related distress. We therefore conducted a parallel-group, randomised control...
Introduction
Robin Sequence (RS) is characterized by retrognathia, glossoptosis, and upper airway obstruction (UAO). Nonetheless, the exact role of retrognathia in RS remains unclear. The aim of this study was to evaluate if measuring retrognathia could be of use next to the polysomnography (PSG) in the diagnosis of RS by differentiating RS patient...
Background:
The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery.
Methods:
A systematic search was conducted on Medline OVID, Embase, Cochrane, Google Scholar, Web of Science Core Collection. Inclusion criteria were English papers, children aged <18 years with n...
Background:
Craniofacial surgery is the standard treatment for children with moderate to severe trigonocephaly. The added value of surgery to release restriction of the frontal lobes is unproven, however. In this study, the authors aim to address the hypothesis that the frontal lobe perfusion is not restricted in trigonocephaly patients by investi...
Background:. Children with Crouzon syndrome have a higher incidence of cerebellar tonsillar herniation (TH) and ventriculomegaly than the general population, or children with other craniosynostosis syndromes.
Objective:. This retrospective cohort study aimed to determine how ventriculomegaly and TH develop and progress over time, and determine asso...
Purpose:
Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized the clinical, molecular and functional spectra of ANKRD11 missense variants.
Methods:
We collected clinical information of individuals with ANKRD11 mis...
Patients with mandibular hypoplasia and upper airway obstruction are at an increased risk of feeding and swallowing difficulties. Little has been described regarding these outcomes following mandibular distraction. The aim of this study was to evaluate the effect of mandibular distraction on feeding and swallowing function. A retrospective study wa...
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the pr...
Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in skull shape can lead to compression of the brain, causing severe complications. While we have some understanding of the...
Objectives
In patients with mandibular hypoplasia, mandibular distraction osteogenesis (MDO) aims to relieve tongue-based airway obstruction. Drug-induced sleep endoscopy (DISE) provides a dynamic assessment of the upper airway and visualizes anatomical site and cause of airway obstruction. The aim of this study was to evaluate the effect of MDO on...
Purpose
Cerebellar tonsillar herniation (TH) occurs frequently in syndromic craniosynostosis; however, the exact pathogenesis is unknown. This study evaluates the association between skull base deformities and TH in syndromic craniosynostosis.
Methods
Retrospective study MRI study comparing syndromic craniosynostosis to controls. Measured paramete...
Purpose
This is the first study that evaluates the prevalence of retinal thinning and the correlation with papilledema and visual acuity (VA) in a large craniosynostosis population.
Design
Prospective clinical cohort study
Methods
All syndromic and complex craniosynostosis patients who visited the only national referral center between 2018-2020 w...
Objective:
Crouzon syndrome with acanthosis nigricans (CAN) is a rare and clinically complex subtype of Crouzon syndrome. At three craniofacial centers, this multicenter study was undertaken to assess clinical signs in relation to the required interventions and treatment course in patients with CAN.
Methods:
A retrospective cohort study of CAN w...
Spatial normalization is an important step for group image processing and evaluation of mean brain perfusion in anatomical regions using arterial spin labeling (ASL) MRI and is typically performed via high-resolution structural brain scans. However, structural segmentation and/or spatial normalization to standard space is complicated when gray-whit...
Aim
To assess the relationship of surface area of the cerebral cortex to intracranial volume (ICV) in syndromic craniosynostosis.
Method
Records of 140 patients (64 males, 76 females; mean age 8y 6mo [SD 5y 6mo], range 1y 2mo–24y 2mo) with syndromic craniosynostosis were reviewed to include clinical and imaging data. Two hundred and three total ma...
The aim of this study was to examine for the presence of implicit bias within the field of plastic surgery using a gender-specific Implicit Association Test (IAT), specifically looking at gender and career stereotypes.
Methods:
A Gender-Career/Family Implicit Association Test was developed and distributed to the international plastic surgery comm...
Introduction: Adolescents with a visible difference can experience difficult social situations, (e.g., people staring or making unwanted comments) and are at risk for mental health problems. Unfortunately, interventions for adolescents with a visible difference who experience appearance-related distress are scarce and lack an evidence-base. This st...
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...
European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone. In 2021, ERNs are already in the deployment stage; however, their day-to-day functioning and realization of their potential are still severely hampered by many challenges, includin...
The aim of this study was to report on a single center’s experience with spring-assisted cranial vault expansion (SAE) in patients with Crouzon syndrome and sagittal suture synostosis. Strip craniotomy with SAE has resulted in successful outcomes with low complication and revision rates in patients with isolated scaphocephaly. However, recent exper...
This article reviews the development of research in the field of craniosynostosis from a bibliometric standpoint. Craniosynostosis is a malformation occurring during the early development of the skull, when one or more of the sutures close too early, causing problems with normal brain and skull growth. Research in this field has developed from earl...
Background
Pathogenic germline variants in T ransient R eceptor P otential V anilloid 4 C ation C hannel ( TRPV4 ) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, som...
Introduction
Obstructive sleep apnea (OSA) is frequently present in patients with syndromic craniosynostosis. The aim of this study is to determine the long-term effectiveness of our OSA treatment protocol in our tertiary center in a cohort of children with syndromic craniosynostosis.
Methods
Children with syndromic craniosynostosis born between J...
Introduction
This paper outlines the study protocol for the Dutch Young People (YP) Face IT Study. Adolescents with a visible difference (ie, disfigurement) often experience challenging social situations such as being stared at, receiving unwanted questions or being teased. As a consequence, some of these adolescents experience adverse psychosocial...
A 35-year-old male with Saethre-Chotzen syndrome presented with severe complaints. Neuroimaging showed a Chiari-I malformation, mild ventriculomegaly, a syrinx of the wide central canal, and various cerebral vascular anomalies including a large occipital emissary vein on the right. Ultrasound of this vein confirmed blocking of the outflow-track whe...
Background and purpose:
Cerebellar tonsillar herniation arises frequently in syndromic craniosynostosis and causes central and obstructive apneas in other diseases through spinal cord compression. The purposes of this study were the following: 1) to determine the prevalence of cervical spinal cord compression in syndromic craniosynostosis, and 2)...
An increased risk of upper airway obstruction (UAO) is seen in up to 95% of patients with facial dysostosis. Secondary to respiratory problems are feeding difficulties and increased nutritional requirements. Little has been described regarding these outcomes in this patient population. Hence, a retrospective cohort study was performed to gather dat...