Publications by authors named "Nathalie Boutry"

Objective: To demonstrate the usefulness of ultrasonography in detecting knee ossification centers in infants with permanent congenital hypothyroidism (PCH).

Methods: From 2011 to 2021, all infants with PCH referred for thyroid ultrasound also underwent left knee ultrasound and radiography on the same day. Knee radiographs were compared with knee sonograms.

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This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis.

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Background: In the presence of pain over the lateral aspect of the foot or recurrent ankle sprain in children, medical imaging is often employed to investigate potential causes, such as a calcaneonavicular coalition or a too-long anterior process (TLAP) of the calcaneus. Diagnosis and categorization of calcaneonavicular coalitions (synostosis, synchondrosis, or synfibrosis) is generally facilitated through imaging, in contrast to TLAP, which lacks well-defined semiological characteristics, apart from a calcaneonavicular space measurement of less than 5 mm. However, this measurement initially performed on an oblique view radiograph can be subject to a lack of precision due to positional variations of the foot and overlapping bones.

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We discuss several variants of the metaphyseal and diaphyseal bone surfaces that may be misleading in clinical practice. They include metaphyseal stripes, spiculated metaphyseal cortex, cortical desmoid, laminated lateral supracondylar ridge, cortical vascular canals, variations in shape or lucency of normal tuberosities, cortical thickening of normal ridges, and well-organized undulated hyperostosis at the proximal phalanges.

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Introduction: The COVID-19 pandemic was a stressful period. Lockdowns may have added to parental difficulty leading to an increase in violence. This study aimed to compare the monthly incidence of high suspicion of child physical abuse before and during the COVID-19 pandemic.

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Introduction: Although the association between Too-Long Anterior Calcaneal Process (TLACP) and osteochondral lesion of the dome of the talus (OCL) has been hypothesized, no study has investigated the interrelations between TLACP, hind and mid-tarsal volumes and angles and the development of OCL. The main goals of this work are: (1) to measure the volume of the calcaneum, talus, navicular and cuboid in subjects with and without TLACP; (2) to evaluate the angular relationships between talus, calcaneum and navicular in subjects with and without TLACP; (3) to assess whether TLACP has an effect on the volume of OCL.

Methods: This is a retrospective study of 69 CT scans of 54 consecutive children aged 11-15 years who had undergone a CT scan due to symptomatology suggestive of TLACP.

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Introduction: The too-long anterior process (TLAP) increases mechanical stress on the hindfoot and could lead to osteochondral lesions of the talus (OLT) by localized hyper-pressure. The purpose of this study is to investigate an association between TLAP and OLT in children.

Methods: This is a retrospective, multicenter, case-control study conducted between 2010 and 2020.

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Our work aims to identify and measure the morpho-anatomical characteristics of too-long anterior calcaneal process based on computed tomography scans done in patients with a history of pain and who have experienced repeated ankle sprains. The computed tomography scans of 69 feet were reviewed. These scans were used to calculate (1) the calcaneo-navicular distance; (2) the height, length, and width of the too-long anterior calcaneal process; (3) the length of the calcaneum; (4) the angle of the too-long anterior calcaneal process in the sagittal (anterior-superior angle), axial (anterior-medial angle), and frontal plane.

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PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an approved PIK3CA inhibitor in oncology, showed promising results in preclinical models and in patients. Here, we report for the first time the outcome of two infants with PROS having life-threatening conditions treated with alpelisib (25 mg) and monitored with pharmacokinetics.

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Identification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information.

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Article Synopsis
  • This study analyzed lung CT findings in children with pulmonary Langerhans cell histiocytosis (PLCH) to assess previously established scoring systems used for adults.
  • Out of 175 children with PLCH, 60 were selected for review, revealing that at diagnosis, many of the children had nodules (63%) and cysts (53%), with an increase in both findings as the disease progressed.
  • The research concluded that the characteristics of PLCH in children mirror those in adults, and the adult CT scoring systems could be effectively utilized for pediatric cases, noting that lesions often occur at the costophrenic angles and that alveolar consolidation is potentially atypical in this age group.
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Normal bone growth of the pediatric knee as well as normal variants of ossification result in different appearances that can be identified on imaging (radiography/MR imaging). Familiarity with these changes is important to avoid confusing normal growth with pathology. This article illustrates the main features related to normal bone growth (growth arrest lines, physeal changes, ossification centers within the epiphysis, hematopoietic marrow within the metaphysis) and physis disappearance (« FOPE »).

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We discuss the imaging of several juvenile inflammatory arthropathies including juvenile idiopathic arthritis, juvenile systemic lupus erythematosus, juvenile scleroderma, juvenile dermatomyositis, and chronic recurrent multifocal osteomyelitis. Juvenile idiopathic arthritis is the most common autoimmune chronic systemic disease of connective tissue in children. The remaining systemic juvenile connective tissue diseases are rare.

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Objectives: To evaluate in children microdose protocol compared with low dose for lower limb alignment (LLA) measurements on biplanar radiography.

Methods: Children 6 years or older were included. Height, weight and hip width were measured prior to imaging.

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Objective: To describe a new sonographic feature for a traumatic lesion of the ankle in children.

Materials And Methods: We present a retrospective review of superior extensor retinaculum (SER) avulsions diagnosed by ultrasound (US) as a cause of subperiosteal haematoma (SPH) and periosteal apposition of the distal fibula in seven children (3 girls and 4 boys, mean age 13.4 years; age range 10-15 years) after an inversion trauma of the ankle.

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Objective: To evaluate prospectively the performance of diffusion-weighted imaging (DWI) for the detection of active lesions on MR enterography (MRE) in children with inflammatory bowel disease (IBD).

Methods: MRE of 48 children (mean age 13 years) with suspected or known IBD were blindly analysed by 2 independent readers for the presence of active lesions. Two sets of imaging including DWI and gadolinium-enhanced imaging (GEI) were reviewed.

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This article presents the recommendations of the European Society of Musculoskeletal Radiology Arthritis Subcommittee regarding the standards of the use of MRI in the diagnosis of musculoskeletal rheumatic diseases. The recommendations discuss (1) the role of MRI in current classification criteria of musculoskeletal rheumatic diseases (including early diagnosis of inflammation, disease follow-up, and identification of disease complications); (2) the impact of MRI on the diagnosis of axial and peripheral spondyloarthritis, rheumatoid arthritis, and juvenile spondyloarthritis; (3) MRI protocols for the axial and peripheral joints; (4) MRI interpretation and reporting for axial and peripheral joints; and finally, (5) methods for assessing MR images including quantitative, semiquantitative, and dynamic contrast-enhanced MRI studies.

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Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24.

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Introduction: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities.

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Unlabelled: Idiopathic scoliosis is one of the most common conditions encountered in paediatric practice. It is a three-dimensional (3D) spinal deformity. Conventional radiography is still the modality of choice for evaluation of children and adolescents with idiopathic scoliosis, but it requires repeat radiographs until skeletal maturity is reached and does not provide information about spinal deformity in all three planes.

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Background: The incidence of childhood bone and joint infections (BJIs) is not well known, but is useful for identifying epidemiological differences and improving practice.

Objective: To determine the incidence of BJI in previously well children and describe their clinical, laboratory and radiological characteristics.

Design: A multicentre, population-based, prospective study performed from July 2008 through June 2009.

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This article reflects the radiologist's perspective on the imaging and interpretation of axial spondylarthritis (SpA). The arthritis subcommittee of the European Society of Skeletal Radiology provides a consensus for the following questions: When and how should we image? How should we analyze the images? How should we interpret the imaging findings? To answer these questions, we address the indications in imaging axial SpA and the different imaging techniques, with a special focus on magnetic resonance imaging protocols. The value of different imaging modalities is discussed.

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Unlabelled: Langerhans cell histiocytosis (LCH) represents a disorder characterised by an abnormal accumulation of histiocytes in miscellaneous tissues. The bone is commonly affected, especially the flat bones, the spine and the long bones. Some lesions in children such as a "vertebra plana" or a solitary lytic lesion of the skull may be suggestive for LCH, whereas others can be confused with a malignant tumour or osteomyelitis.

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Background: Osteogenesis imperfecta (OI), commonly called "brittle bone disease", is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature.

Methods: Severe cases are usually diagnosed before birth and may incite the parents to choose therapeutic abortion, whereas milder cases are much more difficult to diagnose and may be sometimes confused with non-accidental injury (NAI) ("child abuse") in young children.

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