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International audience; A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even in the best hands and conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal Magnetic Resonance Imaging and Computed Tomography in this setting and to illustrate the role of these modalities in various craniofacial malformations: craniosynostosis, facial clefts, ear, eye and nose abnormalities, otomandibular dysplasias and facial cephaloceles.

The most common complication of slipped capital femoral epiphysis (SCFE) is avascular necrosis (AVN) of the femoral head. Surgical treatments including reduction of the femoral head are considered as a risk factor for avascular necrosis. The purpose of this study was to investigate the role of perfusion Magnetic Resonance Imaging (MRI) into the surgical decision-making sequence.Eighteen children with 19 slipped capital femoral epiphysis were retrospectively included. SFCE was unstable in nine cases and stable in ten cases. The slip angle was higher than 60° in 14 cases. Perfusion MRI with dynamic gadolinium-enhanced subtraction sequences were done in all the cases before and after surgical treatment.On nineteen hips, eight were devascularized before surgery. All were unstable. After surgery, six on eight had a complete revascularization, one had a focal necrosis and one remained devascularized. A postoperative devascularization with normal preoperative MRI was noted once. On nineteen hips, a total of three avascular necrosis occurred.Perfusion MRI is useful to assess preoperative and postoperative vascular status in SFCE. Preoperative devascularization could improve or stay equal after surgical treatment. Persistent devascularization could be responsible for avascular necrosis of the femoral head.

Background/Introduction Description of activity and work performed Conclusion and Recommendations Personal/Organisational information References, Background/Introduction: The SFR(Société Française de Radiologie)has a long experience in radiation protection. Numerous actions have been conducted by the SFR in order to improve radiation protection . Main forms of activities provided by the SFR in this field are...

Background/Introduction Description of activity and work performed Conclusion and Recommendations Personal/Organisational information References, Background/Introduction: ...

Aims and objectives Methods and materials Results Conclusion Personal information References, Aims and objectives: Particular attention must be paid to dose optimisation after the installation of a new CT device, especially in paediatric radiology. Innovative tools are offered by CT developers to help dose reduction, such as automated kilovoltage selection...

International audience; Aim of the study Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. Patients and Methods This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. Results From all signs assessed on initial HRCT scans, ground-glass opacities (n=14, 93 %) and lung cysts (n=6, 40 %) were predominant. Interlobular septal thickening (n=1, 7 %), air space consolidation (n=1, 7 %), paraseptal emphysema (n=2, 13 %), and pulmonary nodules (n=1, 7 %) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. Conclusion In children with SFTPC mutations, HRCT scan finding were highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.

Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying biallelic EFL1 mutations in SDS, we define this leukemia predisposition disorder as a ribosomopathy that is caused by corruption of a fundamental, conserved mechanism, which licenses entry of the large ribosomal subunit into translation.