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1

Cabanne, Pierre. Marfaing. Paris: Editions de l'amateur, 1991.

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2

Marfaing, André. André Marfaing: Musée d'art moderne, Réfectoire des Jacobins, Toulouse, 10 novembre 1989-21 janvier 1990. Toulouse: Le Musée, 1990.

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3

Reading, Peter. Marfan. Newcastle upon Tyne [England]: Bloodaxe Books, 2000.

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4

Marfan. Newcastle upon Tyne: Bloodaxe Books, 2000.

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5

P, Nikitin I͡U︡, ed. Sindrom Marfana. Novosibirsk: Izd-vo "Nauka," Sibirskoe otd-nie, 1986.

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6

Pyeritz, Reed E. The Marfan syndrome. 5th ed. Port Washington, N.Y: National Marfan Foundation, 2001.

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7

Fox, Elizabeth Lieber. Marfan syndrome: A categorized bibliography. Shreveport, LA (1501 Kings Hwy., Shreveport 71130): Dept. of Orthopaedic Surgery, Louisiana State University School of Medicine, 1991.

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8

Hetzer, R., P. Gehle, and J. Ennker, eds. Cardiovascular Aspects of Marfan Syndrome. Heidelberg: Steinkopff, 1995. http://dx.doi.org/10.1007/978-3-642-72508-1.

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9

An overview of the Marfan syndrome. Bossier City, La: Everett Pub. Co., 1989.

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10

Phillips, Janet Elizabeth. Fibrillin: Mutational consequences in Marfan syndrome. Manchester: University of Manchester, 1996.

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11

Bernhardt, Barbara A. Marfan syndrome: A booklet for teenagers. Port Washington, N.Y: National Marfan Foundation, 1988.

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12

Child, Anne H., ed. Diagnosis and Management of Marfan Syndrome. London: Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-5442-6.

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13

A bibliography on the Marfan syndrome and associated disorders. Shreveport, LA (1501 Kings Hwy., Shreveport 71130): Louisiana State University School of Medicine, 1986.

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14

Parker, James N., and Philip M. Parker. The official patient's sourcebook on Marfan syndrome. San Diego, Calif: Icon Health Publications, 2002.

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15

Robinson, Peter N., and Maurice Godfrey. Marfan Syndrome: A Primer for Clinicians and Scientists. Boston, MA: Springer US, 2004. http://dx.doi.org/10.1007/978-1-4419-9013-6.

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16

Fox, Elizabeth. A bibliography on the Marfan syndrome and associated disorders. Shreveport, LA: Louisiana State University School of Medicine, 1986.

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17

Parker, Philip M., and James N. Parker. Marfan syndrome: A medical dictionary, bibliography, and annotated research guide to internet references. San Diego, CA: ICON Health Publications, 2004.

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18

G, Sotos John, and Sotos John G, eds. The physical Lincoln complete: Comprising The physical Lincoln 1.1a and The physical Lincoln sourcebook 1.1a. Mt. Vernon, Va: Mt. Vernon Book Systems, 2008.

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19

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

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20

Rubber band girl: A mother's memoir. San Clemente, CA: Sourced Media Books, LLC, 2013.

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21

Pyeritz, Reed E., and Julia Conant. Marfan Syndrome. 4th ed. Natl Marfan Foundation, 1994.

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22

Marfan-Syndrom. Darmstadt: Steinkopff, 2007. http://dx.doi.org/10.1007/978-3-7985-1566-6.

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23

Marfan Syndrome. Natl Marfan Foundation, 1994.

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24

Foundation, British Heart, and Marfan Association UK, eds. The Marfan syndrome. London: British Heart Foundation, 1993.

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25

Marfan Hilfe (Deutschland) e.V. Das Marfan-Syndrom. Springer, 2016.

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26

Das Marfan-Syndrom. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-53259-1.

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27

Pyeritz, Reed E., and Cheryll Gasner. The Marfan Syndrome. 4th ed. National Marfan Foundation, the, 1994.

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28

(Editor), Peter N. Robinson, and Maurice Godfrey (Editor), eds. Marfan Syndrome: A Primer for Clinicians and Scientists (Medical Intelligence Unit). Springer, 2004.

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29

1963-, Robinson Peter N., and Godfrey Maurice, eds. Marfan syndrome: A primer for clinicians and scientists. Georgetown, Tex: Landes Bioscience/Eurekah.com, 2004.

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30

Marfan syndrome: A primer for clinicians and scientists. Georgetown, TX: Landes Bioscience/Eurekah.com, 2005.

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31

Association, Marfan, ed. The Marfan syndrome fact sheet. London: Marfan Association, 1987.

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32

Hetzer, R. Cardiovascular Aspects of Marfan Syndrome. Dr. Dietrich Steinkopff Verlag GmbH & Co. KG, Darmstadt, 2012.

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33

Hetzer, R., and P. Gehle. Cardiovascular Aspects of Marfan Syndrome. Steinkopff, 1995.

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34

Diagnosis and Management of Marfan Syndrome. Springer, 2016.

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35

Child, Anne H. Diagnosis and Management of Marfan Syndrome. Springer, 2018.

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36

Child, Anne H. Diagnosis and Management of Marfan Syndrome. Springer, 2019.

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37

Devereux, Richard B. Mitral Valve Prolapse and the Marfan Syndrome. Raven Pr, 1997.

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38

Publications, ICON Health. The Official Patient's Sourcebook on Marfan Syndrome. Icon Health Publications, 2002.

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39

Marfan Hilfe (Deutschland) e. V. Marfan-Syndrom: Ein Ratgeber für Patienten, Angehörige und Betreuende. Steinkopff-Verlag Darmstadt, 2006.

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40

The strings of murder. 2016.

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41

Thorne, Sara, and Sarah Bowater. Aortic lesions. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198759959.003.0011.

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This chapter describes aortic lesions, including coarctation of the aorta (CoA), patent ductus arteriosus (PDA), aortopulmonary (AP) window, common arterial trunk/truncus arteriosus, Marfan syndrome, and Loeys Dietz syndrome.
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42

Price, Susan. Genetic bone and joint disease. Edited by Patrick Davey and 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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43

Sobrevivencias v1.2: Experiencias de familiares y afectados del síndrome de Marfan. Latinoamérica y España: Mundo Marfan Latino, 2013.

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44

Jean-Bernard, Condat, Imbert de Laphalèque Georges, Guibal du Rivage, Alexandre, b. 1775., and Fétis François-Joseph 1784-1871, eds. Nicolò Paganini, 1782-1840: Musicien, magicien, ou mutan[t] de marfan? Paris: Libr. Honoré Champion, 1990.

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45

Romeo, Thomas J. The Marfan Syndrome: Physical Activity Guidelines for Physical Educators, Coaches & Physicians. National Marfan Foundation, the, 1992.

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46

Publications, ICON Health. Marfan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. ICON Health Publications, 2004.

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47

Pritchett, Lori C. Bovine Marfan syndrome: Characterization of RFLPs in cattle using human genetic marker D15S1. 1992.

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48

Wordsworth, Paul. Metabolic disease of skeleton and inherited disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199550647.003.010001.

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♦ Classic metabolic bone diseases include osteoporosis, osteomalacia, Paget’s disease, and parathyroid bone disease♦ Heritable disorders of the skeleton include numerous osteochrondrodysplasias, Marfan syndrome, and Ehlers-Danlos syndrome♦ Investigation of short stature is indicated for those below 0.4 percentile, with skeletal disproportion and/or progressive shortness♦ Genetic mutations for most of these conditions have been identified but clinical/radiographic features are usually diagnostic.
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49

Michels, Virginia V. Genetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0276.

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Genetic factors play a role in the development of many types of human disease. Genetic determinants may be chromosome abnormalities (Down syndrome, Kleinfelter syndrome, Turner syndrome), single gene defects (dilated and hypertrophic cardiomyopathies, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis, tuberous sclerosis, Gaucher disease, cystic fibrosis, sickle cell disease), mitochondrial mutations (MELAS, MERRF, Kearns-Sayre syndrome), or epigenetic or multifactorial factors. Genetics testing methods are also reviewed.
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50

Manuel, Solmaz P., Christine L. Mai, and Robert Brustowicz. Orthopedic Surgery. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199398348.003.0018.

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Anesthesia for pediatric orthopedic and spinal surgery presents multiple challenges for the anesthesiologist. Children often present with comorbidities and concomitant diseases that affect the respiratory and cardiovascular functions. Significant blood loss and prolonged operating times can pose significant risks. Airway management in a child with a syndrome can be both difficult and challenging. Orthopedic tumor surgery may be complicated by chemotherapy treatment, anesthetics can be affected by drug interactions, and postoperative pain management can be complex. In this chapter, we review common coexisting diseases in pediatric patients undergoing orthopedic surgeries. These diseases include syndromes such as Down syndrome, Marfan syndrome, and Klippel-Feil syndrome; muscular dystrophies such as Duchenne muscular dystrophy; and bony cancers such as osteosarcoma.
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