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The purpose of this retrospective study was to assess the prevalence of papilledema in patients with isolated craniosynostosis. Second, we wanted to assess if the presence of ventricular dilatation on computed tomography (CT) scan is a predictive factor for the occurrence of papilledema. We included 205 consecutive children with an isolated single-suture craniosynostosis, who had at least 1 fundus examination. Preoperative CT scans of the brain were examined for the presence of ventricular dilatation.Papilledema developed in 14 of 205 patients: 10 developed papilledema before surgery and 4 during the follow-up period. Ten of the patients with papilledema had a synostosis of the sagittal suture, and 4 of the metopic suture. Prevalence of papilledema in scaphocephaly was 9.7%, and in trigonocephaly, 5.6%. Based on evaluation of all CT scans, ventricular dilatation seemed not to be a predictive factor for papilledema in children with isolated craniosynostosis.The incidence of papilledema in almost 10% of scaphocephaly patients is remarkably higher than expected. Therefore, we recommend routine preoperative screening, especially for patients with scaphocephaly, but also for patients with trigonocephaly. Postoperative screening is recommended in all patients when there is any uncertainty.

Introduction A considerable number of patients experience some long-term weight regain after bariatric surgery. Body contouring surgery (BCS) is thought to strengthen post-bariatric surgery patients in their weight control and maintenance of achieved improvements in comorbidities. Objectives To examine the impact of BCS on long-term weight control and comorbidities after bariatric surgery. Methods We performed a retrospective study in a prospective database. All patients who underwent primary Roux-en-Y gastric bypass (RYGB) and presented for preoperative consultation of BCS in the same hospital were included in the study. Linear and logistic mixed-effect model analyses were used to evaluate the longitudinal relationships between patients who were accepted or rejected for BCS and their weight loss outcomes or changes in comorbidities. Results Of the 1150 patients who underwent primary RYGB between January 2010 and December 2014, 258 patients (22.4%) presented for preoperative consultation of BCS. Of these patients, 126 patients eventually underwent BCS (48.8%). Patients who were accepted for BCS demonstrated significant better ∆body mass index (BMI) on average over time (− 1.31 kg/m 2 /year, 95% confidence interval (CI) −2.52 − −0.10, p = 0.034) and percent total weight loss (%TWL) was significantly different at 36 months (5.79, 95%CI 1.22 – 10.37, p = 0.013) and 48 months (6.78, 95%CI 0.93 – 12.63, p = 0.023) after body contouring consultation. Patients who were accepted or rejected did not differ significantly in the maintenance of achieved improvements in comorbidities. Conclusion BCS could not be associated with the maintenance of achieved improvements in comorbidities after bariatric surgery, whereas it could be associated with improved weight loss maintenance at 36 and 48 months after body contouring consultation. This association should be further explored in a large longitudinal study.

In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identified two patients with craniosynostosis and microcephaly with a deletion in the 2p15p16.1 chromosomal region. This region has been associated with a new microdeletion syndrome, for which patients have various features in common, including microcephaly and intellectual disability. Deletions were identified using Affymetrix 250K SNP array and further characterized by fluorescence in situ hybridization (FISH) analysis and qPCR. The deletions in our two patients overlapped within the 2p15p16.1 microdeletion syndrome area and were 6.8 and 6.9 Mb in size, respectively. FISH and qPCR confirmed the presence of only one copy in this region. Finemapping of the breakpoints indicated precise borders in our patients and were further finemapped in two other previously reported patients. Clinical features of patients with deletions in the 2p15p16.1 region vary. Including data from our patients, now eight out of nine reported patients have microcephaly, one of the major features, and all had intellectual disability. The current reported two patients add different forms of craniosynostosis to the clinical spectrum of this recently recognized microdeletion syndrome.

We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra-cranial features. Linkage analysis and genome sequencing were performed to identify the underlying genetic mutation. A c.443C>T missense mutation in MSX2, which predicts p.Pro148Leu was identified and segregated with the disease in all affected family members. One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis.