Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways

Space/time tectono-sedimentary evolution of the Umbria-Romagna-Marche Miocene Basin (Northern Apennines, Italy): a foredeep model.

The space/time evolution of the Umbria-Romagna-Marche domains of the northern Apennine Miocene foredeep is proposed. In this period, the turbidite siliciclastic sedimentation is represented mainly by the Miocene Marnoso-Arenacea Formation, which generally ends with mainly marly deposits. From the internal Apennine sectors (Umbria-Romagna domain) to the external Adriatic Margin (Marche domain) the siliciclastic succession overlies hemipelagic marly deposits (Schlier Formation). The whole depositional area can be considered as a single wide basin with depocenter or main sedimentation areas progressively migrating eastwards. This basin is characterized by some morphological highs which did not constitute real dams for the sedimentary flow(turbidity currents). Multiple feeding (arkose, litharenites, calcarenites) from different sources is related to palaeogeographical and palaeotectonic reorganization of the most internal, previously deformed, Apennine areas. The activation of the foredeep stage is marked by the beginning of the siliciclastic sedimentation (Late Burdigalian in the most internal sector). This sedimentation ends in the most external sector in the Early Messinian, pointing to a depositional cycle of about 9–10 Ma. The diachronism of the base of the siliciclastic deposition proves to be almost 5 Ma. The syn-depositional compressional deformation, which shows a marked diachronism, affected the internal area of the foredeep in the Early-Middle Serravallian, and progressively migrated up to Late Miocene, involving more and more external sectors. The deformed siliciclastic sedimentary wedge constitutes an orogenic pile incorporated in the Apennine Chain, represented by different tectonic elements superimposed by means of NE-vergent thrusts. The main stratigraphic and tectonic events of the Toscana-Romagna-Marche Apennines are presented in a general framework,resulting also in a terminological revision