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Abnormal number of fetal ribs or vertebrae and associated congenital abnormalities and adverse fetal outcome; The need for prenatal detection of rib and vertebral abnormalities by 2D&3D-ultrasound.

The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…

Taste, Speech and oro-facial relations following partial tongue reduction: A single-center, longitudinal, functional outcome study in patients with Beckwith-Wiedemann Syndrome that have undergone tongue reduction surgery

The aim of this study is to investigate the long-term outcomes in patients with BWS that have been surgically treated at our institution with the help of simple, non-invasive, objective study tools. We hope to gain valuable information regarding the…

Rare Facial Clefts: Physical and Psychological Outcome and it's Implications, addendum: "Fysical features of patients with proven genetic mutation (EfnB1) and clinical diagnosis of Craniofrontonasal Dysplasia"

zie bovenstaand

WGS-first approach: One-tests-fits-all to diagnose rare genetic disorders

We aim to proof that introduction of (rapid) NGS-based sequencing (WES/WGS) as a first tier genetic test in the diagnostic process for critically ill newborns admitted at the NICU and patients with severe neurodevelopmental disorders leads to faster…

Optimal timing and technique for surgical correction of peri-orbital osseous deformities in congenital craniofacial disorders

Primary objective:To determine the most optimal technique and timing of surgery for correction of peri-orbital osseous deformities (hypertelorism, vertical orbital dystopia, and/or midface hypoplasia) for each specific condition (1. syndromic…

Cerebral Perfusion Imaging in Children with Sickle Cell Disease

To sess the relationship between cerebral perfusion and clinical findings (neurological and neuropsychological) in patients with sickle cell disease.To compare iamging fincdings in children with and without sickle cell disease.

Improving risk assessment in consanguineous couples by means of SNP analysis

The objective of this research is to develop a method which can identify among all consanguineous couples the ones which are at high risk.

Evaluation of the oral uracil loading test as a sensitive, simple and cheap method to detect DPD deficiency.

The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency

Bèta-TCP (bèta-tricalcium phosphate) as a bone substitute in patients undergoing repair of the alveolar cleft in CLP(Cleft Lip Palate) patients.

This current study aims to investigate the use of Curios bèta-TCP, a synthetic tricalcium phosphate for repair of the alveolar cleft in patients with clefts of lip, alveolus and palate.The specific properties of Progentix TCP result in optimal and…

Long term effects of outflow obstruction due to congenital anomalies of the vagina, the uterus or the uterine cervix.

Primary Objective: The painscores regarding abdominal pain among women with primary outflow obstruction in comparison with an age matched control group.Secondary Objective(s): The prevalence of sexual problems due to the congenital anomalies or the…

Prospective study in congenital giant melanocytic naevi after curettage and laser ablation with the Erbium YAG laser (left-right comparison)

Proof that laser treatment will be better than the routine method using curettage. Besides it is claimed that laser treatment is less painfull.This will be assessed by photography, in which only black white (grey) evaluations are made. Colours are…

The use of β-TCP (bèta-tricalcium phosphate) as a filler of the autologous symphyseal bone graft harvest site in patients undergoing grafting of alveolar clefts in CLAP(Cleft Lip Alveolus Palate) patients

This current study aims to investigate the use of bèta-TCP, a synthetic tricalcium phosphate, as a filler of the autologous symphyseal bone graft harvest site in patients undergoing grafting of clefts of lip, alveolus and palate.The specific…

Dysmorphic Features in Children with Autism Spectrum Disorders

The purpose of the present study is to try to classify autistic children into distinct subgroups, by clinical morphological examination. We mainly want to answer the following questions: 1) Is there an increased prevalence of minor anomalies in…

Magnetic Resonance Imaging in patients with craniosynostosis.

1. To assess whether microarchitectural alterations in the brain of different types of craniosynostosis patients are indeed primary.2. To assess local cerebral perfusion in craniosynostosis patients and its change after surgery.3. To understand the…

Glycosylation Defects causing DYslipidemia

To characterize the dyslipidemias and their consequences in carriers of mutations in glycosylation genes.

Adolescent boys with an Autism Spectrum Disorder about their sexuality: a mixed methods approach.

This study aims to gain more insight in the sexual development of adolescent boys with ASDs.The main research question is: How do high functioning boys with ASD develop sexually? The main research question is worked out in 2 parts/1. Which sexual…

The effect of acquired brain dysfunction on visuomotor integration in neonatal critically ill children

Do neonatal critically ill children aged 9-16 years have problems with visuomotor integration? If yes, which aspects of the visuomotor integration are affected and require a possible intervention?

Black bone MRI in unisutural craniosynostosis patients.

Primary Objective: To validate the predictive value of MRI data for neurocognitive deficits and visual functioning by relating these data from newborns with unisutural craniosynostosis to the psychological and ophthalmologic test results, taken…

Bariatric surgery and EmbrYONic Development

To assess embryonic, foetal and placental growth trajectories by serial assessments of sizes and volumes and foetal morphology during the first, second and third trimester of pregnancy with the aim to examine whether BS influences embryonic growth…

Compromised airway in children with congenital mandibular hypoplasia

Primary Objective: 1: To determine the severity of respiratory problems, treatment modalities and outcome in the first year of life. Secondary Objectives:2a: To evaluate the course of respiratory problems and quality of life on long term follow-up.…