Background Surgical methods to treat craniosynostosis have evolved from a simple strip craniectomy to a diverse spectrum of partial or complete cranial vault remodeling with excellent results but often with high comorbidity. Therefore, minimal invasive craniosynostosis surgery has been explored in the last few decades. The main goal of minimal invasive craniosynostosis surgery is to reduce the ...

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...

As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t=9.0, p<.001), and rates...

Patients with syndromic craniosynostosis suffering from shallow orbits due to midface hypoplasia can be treated with a Le Fort III advancement osteotomy. This study evaluates the influence of Le Fort III advancement on orbital volume, position of the infra-orbital rim and globe. In pre- and post-operative CT-scans of 18 syndromic craniosynostosis patients, segmentation of the left and right orb...

Positional (or map-based) cloning techniques are widely used to identify the protein products of genes defined by mutation. In Arabidopsis the information generated by the Genome Initiative is giving this approach a decisive boost. A wealth of sequence polymorphisms and molecular markers is now available and can be exploited for fine mapping with technically simple and robust polymerase chain r...