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Auteur : Grafiati

Publié le 11 mars 2023

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1

M, Hall Christine, et Apley A. Graham, dir. Atlas of skeletal dysplasias. Edinburgh : Churchill Livingstone, 1985.

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2

Kozlowski, Kazimierz, et Peter Beighton. Gamut Index of Skeletal Dysplasias. London : Springer London, 1995. http://dx.doi.org/10.1007/978-1-4471-3492-3.

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3

Kozlowski, Kazimierz, et Peter Beighton. Gamut Index of Skeletal Dysplasias. London : Springer London, 2001. http://dx.doi.org/10.1007/978-1-4471-0295-3.

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4

1935-, Lachman Ralph S., dir. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4^e éd. St. Louis : Mosby, 1996.

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5

1935-, Lachman Ralph S., et Taybi Hooshang 1919-, dir. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 3^e éd. Chicago : Year Book Medical Publishers, 1990.

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6

Peter, Beighton, dir. Gamut index of skeletal dysplasias : An aid to radiodiagnosis. 2^e éd. London : Springer, 1995.

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7

Spranger, Jürgen W. Bone dysplasias : An atlas of genetic disorders of skeletal development. 3^e éd. Oxford : Oxford University Press, 2012.

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8

W, Brill Paula, et Poznanski Andrew K. 1931-, dir. Bone dysplasias : An atlas of genetic disorders of skeletal development. 2^e éd. Oxford : Oxford University Press, 2002.

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9

1919-, Taybi Hooshang, dir. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5^e éd. Philadelphia : Mosby Elsevier, 2007.

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10

Parker, James N., et Philip M. Parker. Thanatophoric dysplasia : A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA : ICON Health Publications, 2007.

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11

Weil, U. H. Acetabular Dysplasia : Skeletal Dysplasias in Childhood. Springer, 2011.

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12

Acetabular Dysplasia : Skeletal Dysplasias in Childhood. Springer, 2011.

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13

Moss, H. L., Ulrich H. Weil, E. Morscher, Wiktor Dega et G. D. MacEwen. Acetabular Dysplasia : Skeletal Dysplasias in Childhood. Springer London, Limited, 2012.

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14

Wordsworth, B. P. Skeletal dysplasias. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0150.

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Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism. Skeletal dysplasias are developmental disorders of the chondro-osseous tissues commonly resulting in short stature, which is often disproportionate. The underlying mutations are often in the structural genes encoding components of the matrix but may also involve growth factors or cell signalling. In contrast, the dysostoses tend to affect single bones or groups of bones, reflecting the transient nature of the many different signalling factors to which they are responsive during development. Abnormalities of bone density (high or low) may be due to primary deficiency of bone matrix synthesis (e.g. osteogenesis imperfecta and hypophosphatasia) but may also reflect an imbalance between bone formation and resorption. This may be caused by abnormalities of bone formation (e.g. hyperostosis/sclerosteosis and osteoporosis pseudoglioma syndrome) or bone resorption (e.g. classic osteopetrosis and fibrous dysplasia).

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15

Hamdy. Skeletal Dysplasias. Informa Healthcare, 2009.

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16

Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania, Michelle Fink et Deborah Krakow. Fetal and Perinatal Skeletal Dysplasias. CRC Press, 2012. http://dx.doi.org/10.1201/9781315365312.

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17

Spranger, Jürgen W., Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga et Sheila Unger. Bone Dysplasias. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190626655.001.0001.

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This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic and clinical features. Each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. A major advantage is the systematic conformation of chapters, sparing the reader a cumbersome read-through of longer text. Presentation in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders.

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18

Spranger, Jurgen W., Paula Brill, Andrea Superti-Furga, Sheila Unger et Gen Nishimura. Bone Dysplasias. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195396089.001.0001.

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This comprehensive resource in the study and investigation of bone dysplasias is a must-have resource for radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic counselors caring for patients who present with a great number of skeletal disorders, many of which are new conditions that have only been recently identified. Bone Dysplasias contains more than 100 chapters on newer entities to assist the practitioner in narrowing a group of diagnostic possibilities to a specific disorder; over 2,500 diagnostic radiographs with concise clinical and biological information on a total of 275 rare constitutional skeletal diseases, and concise data on the etiopathogenesis, natural course, complications, and differential diagnosis of rare conditions.

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19

Price, Susan. Genetic bone and joint disease. Sous la direction de Patrick Davey et David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0276.

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Genetic conditions affecting the skeleton and supporting structures are individually rare and heterogeneous. This chapter presents an approach to assessing patients with suspected skeletal dysplasia, osteogenesis imperfecta, Marfan syndrome, and Ehlers–Danlos syndrome. Skeletal dysplasias are caused by abnormalities of bone growth and modelling; the commonest non-lethal type is achondroplasia, with an incidence of 1/10 000 to 1/30 000. The typical presentation of osteogenesis imperfecta is with multiple fractures, sometimes prenatally. There may be associated short stature, bone deformity, dentogenesis imperfecta, blue sclera, and hearing loss. Most patients with osteogenesis imperfecta have mutations in COL1A1 or COL1A2. Marfan syndrome is a connective tissue disease with a pattern of symptoms related to the presence of fibrillin in tissues. Typically, affected individuals are of tall, thin stature, with long fingers and toes (arachnodactyly), a pectus deformity, and scoliosis. Between 66% and 91% of individuals with Marfan syndrome have a mutation in fibrillin-1 (FBN1; locus: 15q21). All forms of Ehlers–Danlos syndrome present with variable thinning and fragility of skin, leading to easy bruising and poor scar formation. There is skin and joint laxity. In severe forms, blood vessels and internal organs are affected.

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20

Foster, Helen, et Paul A. Brogan, dir. Bone diseases, skeletal dysplasias, disorders of collagen. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199592630.003.0005.

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Metabolic bone diseases 330Skeletal dysplasias 333The osteochondroses 343Heritable disorders of connective tissue 346• Principal features are bone fragility and low bone mass leading to fractures and bone deformity with growth retardation.• Ligamentous laxity, dentinogenesis imperfecta, and blue scleral hue are variable features. 90% of OI dominantly inherited due to defects in the type ↑ collagen genes ...

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21

Foster, Brogan, et Paul A. Brogan. Bone diseases, skeletal dysplasias, and collagen disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.003.0005.

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This chapter provides detailed clinical descriptions and treatment guidance for metabolic bone diseases, skeletal dysplasias, the osteochondroses, and heritable disorders of connective tissue. It provides updated descriptions of osteoporosis (both primary and secondary), rickets, osteopetrosis, avascular necrosis, and guidance on the use of bone densitometry in children. An extensive description of the skeletal dysplasias is provided, including a table for easy reference summarising the principal clinical features, radiological findings, and genetics of more commonly encountered conditions. Comprehensive clinical descriptions of the osteochondroses, including features found on imaging, differential diagnoses, important clinical pitfalls to be wary of, and treatment recommendations are provided. The heritable disorders of connective tissue are described in detail, and fully updated with current nosology, including Ehlers–Danlos syndromes, Marfan syndrome, and osteogenesis imperfecta.

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22

Beighton, Peter, et Kazimierz Kozlowski. Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. Springer, 2012.

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23

Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. 3^e éd. Springer, 2001.

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24

Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. Springer, 2012.

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25

Kozlowski, K., P. Beighton et F. N. Silverman. Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. Springer London, Limited, 2012.

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26

Beighton, Peter, et Kazimierz Kozlowski. Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. Springer London, Limited, 2012.

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27

Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania et Michelle Fink. Fetal and Perinatal Skeletal Dysplasias : An Atlas of Multimodality Imaging. Taylor & Francis Group, 2012.

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28

Fetal And Perinatal Skeletal Dysplasias An Atlas Of Multimodality Imaging. Radcliffe Publishing Ltd, 2012.

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29

Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania et Michelle Fink. Fetal and Perinatal Skeletal Dysplasias : An Atlas of Multimodality Imaging. Taylor & Francis Group, 2012.

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30

Hall, Christine M., Amaka C. Offiah, Mario Lituania, Michelle Fink et Deborah Krakow. Fetal and Perinatal Skeletal Dysplasias : An Atlas of Multimodality Imaging. Taylor & Francis Group, 2012.

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31

Brill, Paula W., Christine Hall, Jürgen W. Spranger, Nishimura et Andrea Superti-Furga. Bone Dysplasias : An Atlas of Genetic Disorders of Skeletal Development. Oxford University Press, Incorporated, 2018.

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32

Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania et Michelle Fink. Fetal and Perinatal Skeletal Dysplasias : An Atlas of Multimodality Imaging. Taylor & Francis Group, 2012.

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33

Lachman, Ralph. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. 5^e éd. Mosby, 2006.

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34

Rehder, Helga. Skeletal Dysplasias and Malformation (Fetal Genetic Pathology : Malformations and Syndromes in the Fetus). Springer, 2008.

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35

Hall, Christine M. Radiological Atlas of Malformation Syndromes and Skeletal Dysplasias : Windows Cd-Rom Site Licence. Oxford University Press, 2000.

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36

Hall, Christine M., et John Washbrook. Radiological Atlas of Malformation Syndromes and Skeletal Dysplasias : Windows CD-ROM Single User Version. Oxford University Press, USA, 2000.

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37

Roze, Emmanuel, et Frédéric Sedel. Gangliosidoses (GM1 and GM2). Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0050.

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GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.

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38

Sarwark, John, et Cynthia LaBella, dir. Pediatric Orthopaedics and Sports Injuries. 2^e éd. American Academy of Pediatrics, 2010. http://dx.doi.org/10.1542/9781581108521.

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All-new guide on the diagnosis and treatment and referral of orthopaedic problems and sports injuries. The new Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide efficiently delivers the essential guidance and how-to-do-it recommendations you need. Turn here for concise summaries of disorders and injuries. Proven evaluation, treatment, and rehabilitation approaches. Practice-tested tips, and invaluable clinical pearls. Efficiently respond to diverse clinical challenges: Common sports injuries, Trauma, Limb disorders, Spine disorders Hip and pelvis disorders, Infections, Tumors, Skeletal dysplasias. Plus, you'll find step-by-step help with musculoskeletal examination and evaluation; casting and splinting; imaging techniques, and rehabilitation strategies. The book features many illustrations, clinical photographs and radiographic images to demonstrate physical examination techniques and pathologic physical findings, as well as tables and figures to aid in diagnosis. Streamline orthopedic problem-solving: Etiology/epidemiology, Signs and symptoms, Differential diagnosis, How to make the diagnosis, Treatment, Rehabilitation, Expected outcomes/prognosis, Coding for proper payment, and when to refer.

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39

Sarwark, John F., et Cynthia R. LaBella, dir. Pediatric Orthopaedics and Sports Injuries. American Academy of Pediatrics, 2010. http://dx.doi.org/10.1542/9781581105162.

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All-new guide on the diagnosis and treatment and referral of orthopaedic problems and sports injuries. The new Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide efficiently delivers the essential guidance and how-to-do-it recommendations you need. Turn here for concise summaries of disorders and injuries. Proven evaluation, treatment, and rehabilitation approaches. Practice-tested tips, and invaluable clinical pearls. Efficiently respond to diverse clinical challenges: Common sports injuries, Trauma, Limb disorders, Spine disorders Hip and pelvis disorders, Infections, Tumors, Skeletal dysplasias. Plus, you’ll find step-by-step help with musculoskeletal examination and evaluation; casting and splinting; imaging techniques, and rehabilitation strategies. The book features many illustrations, clinical photographs and radiographic images to demonstrate physical examination techniques and pathologic physical findings, as well as tables and figures to aid in diagnosis. Streamline orthopedic problem-solving: Etiology/epidemiology, Signs and symptoms, Differential diagnosis, How to make the diagnosis, Treatment, Rehabilitation, Expected outcomes/prognosis, Coding for proper payment, and when to refer.

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40

Foster, Helen E., et Paul A. Brogan, dir. Paediatric Rheumatology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.001.0001.

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Paediatric Rheumatology, second edition is an indispensable resource for the identification and management of rheumatological diseases of children and young people. As well as covering common and rare musculoskeletal problems, there are also chapters on rheumatological emergencies designed for quick reference, and essential core clinical skills of relevance to the full spectrum of paediatric rheumatological disease. This second edition is fully updated, including state-of-the-art descriptions of new autoinflammatory diseases, advances in genetics in paediatric rheumatology, up-to-date guidance on the treatment of JIA, vasculitis, SLE, JDM, and other connective tissue diseases. Highlights of the second edition include alignment of management approaches for paediatric rheumatological diseases with recent evidence-based / consensus European guidelines; a description of North American treatment approaches to JIA; updated chapters on more specialist interventions including immunization in the immunosuppressed, and haematopoietic stem cell transplantation; and sections describing approaches to the management of rheumatological diseases in developing countries. Bone diseases are also described in detail including CRMO, skeletal dysplasias, and metabolic bone diseases. The second edition also includes a colour plate depicting rashes presenting in paediatric rheumatological conditions. This second edition is fully endorsed by the British Society for Paediatric and Adolescent Rheumatology (BSPAR), and many members of BSPAR have contributed most of the chapters. This second edition thus provides fully updated clinical guidelines and supporting information needed to successfully manage children and young people with rheumatological conditions.

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