-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

It is safe to use the ulnar length difference to correct the radial length difference in the 3D-planning process of a radius osteotomy in patients with a distal radius malunion.

Background: A corrective radius osteotomy is often performed in patients with a symptomatic distal radius malunion. In 3D-planned osteotomies, the unaffected radius is mirrored over the malunited radius after adjusting for left-right length differences using both ulnae. This approach assumes that ulnar length differences in a malunion population are similar to those in a healthy population.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).

External post-mortem examination in virtual reality-scalability of a monocentric application.

Conducting external post-mortem examinations is an essential skill required of physicians in various countries, regardless of their specialization. However, the quality of these examinations has been a subject of continuous debates, and notable errors were reviled. In response to these shortcomings, a virtual reality (VR) application was developed at Halle's medical department in Germany, focusing on the scene of discovery and the completion of death certificates.