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Littératures-Documentations

 

 

– Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the
Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017.

– PNDS, son argumentaire et synthèse à destination du médecin traitant ont été élaborés par le centre de référence des Maladies Osseuses Constitutionnelles (MOC) sous l’égide de la filière OSCAR. Il a servi de base à l’élaboration du PNDS sur les syndromes d’Ehlers-Danlos Non Vasculaires.
– www.has-sante.fr/jcms/p_3187041/fr/syndrome-d-ehlers-danlos-non-vasculaire-sed-nv
Littératures utilisées par l’UNSED

Les écrits de l’UNSED sont tirées des littératures suivantes :
Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos
syndromes: revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation
(USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998
Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular
events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blindedendpoints
trial. Lancet 2010 Frank M, Albuisson J, Ranque B, et al. The type of variants at the COL3A1 gene
associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J
Hum Genet 2015 Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. Gastrointestinal involvement in
the Ehlers-Danlos syndromes. Am J Med Genet Part C Semin Med Genet
2017Castori M, Morlino S, Celletti C, et al. Re-writing the natural history of pain and related
symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility
type. Am J Med Genet A 2013 Pediatry 1999;135:494-9.Tinkle B, Castori M, Berglund B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a.Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type):
Clinical description and natural history. Am J Med Genet C Semin Med Genet
2017deformity in Ehlers-Danlos syndrome type VI. Eur Spine J 2003;12:135-40.
18. Ericson WB, Wolman R. Orthopaedic management of the Ehlers-Danlos sydromes. Am J
Med Genet Part C Semin Med Genet 2017
Voermans NC, Knoop H, Bleijenberg G, van Engelen BG. Pain in Ehlers-Danlos
syndrome is common, severe, and associated with functional impairment. J Pain
Symptom Manage 2010Castori M, Morlino S, Celletti C, et al. Management of pain and fatigue in the joint
hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type):
principles and proposal for a multidisciplinary approach. Am J Med Genet A
2012Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in joint
hypermobility syndrome. J R Soc Med 2005
Castori M, Morlino S, Dordoni C, et al.. Gynecologic and obstetric implications of the
joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82
Italian patients. Am J Med Genet A 2012
De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome
and other collagen vascular disorders. Br J Haematol 2004
Castori M, Sperduti I, Celletti C, Camerota F, Grammatico P. Symptom and joint
mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome,
hypermobility type). Clin Exp Rheumatol 2011
Moller MB, Kjaer M, Svensson RB, Andersen JL, Magnusson SP, Nielsen RH.
Functional adaptation of tendon and skeletal muscle to resistance training in three
patients with genetically verified classic Ehlers Danlos Syndrome. Muscles Ligaments
Tendons J 2014
Celletti C, Galli M, Cimolin V, Castori M, Albertini G, Camerota F. Relationship
between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos
syndrome hypermobility type. Res Dev Disabil 2012
Rombaut L, De Paepe A, Malfait F, Cools A, Calders P. Joint position sense and
vibratory perception sense in patients with Ehlers-Danlos syndrome type III
(hypermobility type). Clin Rheumatol 2010
Rombaut L, Malfait F, De Paepe A, et al. Impairment and impact of pain in female
patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and
rheumatoid arthritis. Arthritis Rheum 2011
Rombaut L, Malfait F, De Wandele I, et al. Muscle-tendon tissue properties in the
hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken)
2012
Fikree A, Grahame R, Aktar R et al. A Prospective Evaluation of Undiagnosed Joint
Hypermobility Syndrome in Patients With Gastrointestinal Symptoms. Clin
Gastroenterol Hepatol 2014
Green GJ, Schuman BM, Barron J. Ehlers-Danlos syndrome complicated by acute
hemorrhagic sigmoid diverticulitis, with an unusual mitral valve abnormality. Am J
Med 1966
Derpapas A, Cartwright R, Upadhyaya P, Bhide AA, Digesu AG, Khullar V. Lack of
Association of Joint Hypermobility with Urinary Incontinence Subtypes and Pelvic
Organ Prolapse. BJU Int 2015
Fogel S. Surgical failures: is it the surgeon or the patient? The all too often missed
diagnosis of Ehlers-Danlos syndrome. Am Surg 2013
Dordoni C, Ciaccio C, Venturini M, et al. Further delineation of FKBP14-related Ehlers-
Danlos syndrome: A patient with early vascular complications and non-progressive
kyphoscoliosis, and literature review. Am J Med Genet A 2016
Carley ME, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with
Marfan or Ehlers Danlos syndrome. Am J Obstet Gynecol 2000
Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in joint
hypermobility syndrome. J R Soc Med 2005
Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen
BG. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos syndrome.
Semin Arthritis Rheum 2010
Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RH. Measurement
properties of clinical assessment methods for classifying generalized joint
hypermobility-A systematic review. Am J Med Genet C Semin Med Genet
2017
Rombaut L, Malfait F, Cools A, De Paepe A, Calders P. Musculoskeletal complaints,
physical activity and health-related quality of life among patients with the Ehlers-
Danlos syndrome hypermobility type. Disabil Rehabil 2010
Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic
Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A 2010
Engelbert RH, Juul-Kristensen B, Pacey V, et al. The evidence-based rationale for
physical therapy treatment of children, adolescents, and adults diagnosed with joint
hypermobility syndrome/hypermobile Ehlers-Danlos syndrome. Am J Med Genet Part C
Semin Med Genet 2017
Barron DF, Cohen BA, Geraghty MT, Violand R, Rowe PC. Joint hypermobility is
more common in children with chronic fatigue syndrome than in healthy controls. J
Pediatr 2002
Hakim A, de Wandele I, O’Callaghan C, Pocinki A, Rowe P. Chronic fatigue in Ehlers-
Danlos syndrome, hypermobile type. Am J Med Genet Part C Semin Med Genet
2017
Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. Gastrointestinal involvement in
the Ehlers-Danlos syndromes. Am J Med Genet Part C Semin Med Genet
2017
Malfait F, Syx D, Vlummens P, et al. Musculocontractural Ehlers-Danlos Syndrome
(former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a
single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding
CHST14 gene. Hum Mutat 2010
Henderson FC, Austin C, Benzel E, et al. Neurological and spinal manifestations of the
Ehlers-Danlos syndromes. Am J Med Genet Part C Semin Med Genet 2017
Hakim A, O’Callaghan C, de Wandele I, Stiles L, Pocinki A, Rowe P. Cardiovascular
autonomic dysfunction in Ehlers-Danlos syndrome, hypermobile type. Am J Med Genet
Part C Semin Med Genet 2017
Malfait F, Kariminejad A, Van Damme T, et al. Defective initiation of
glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-
Danlos-syndrome-like connective tissue disorder. Am J Hum Genet 2013
Muller T, Mizumoto S, Suresh I, et al. Loss of dermatan sulfate epimerase (DSE)
function results in musculocontractural Ehlers-Danlos syndrome. Hum Mol Genet
2013
Kemp AM, Dunstan F, Harrison S, et al. Patterns of skeletal fractures in child abuse:
systematic review. BMJ 2008
Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos
syndrome, classic type. Genet Med 2010
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De
Paepe A. Comprehensive molecular analysis demonstrates type V collagen mutations in
over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum
Mutat 2012



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of Connective Tissue, Berlin, 1986. Am J Med Genet 1988
Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in joint
hypermobility syndrome. J R Soc Med 2005
Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in
vascular Ehlers-Danlos syndrome. Am J Med Genet Part C Semin Med Genet
2017
Frank M, Albuisson J, Ranque B, et al. The type of variants at the COL3A1 gene
associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J
Hum Genet 2015
Tinkle B, Castori M, Berglund B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a.
Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type):
clinical description and natural history. Am J Med Genet Part C Semin Med Genet
2017Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of
benign joint hypermobility syndrome. J Rheumatol 2000
Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the
classification of joint hypermobility and related conditions. Am J Med Genet Part C
Semin Med Genet 2017
Giunta C, Baumann M, Fauth C, et al. A cohort of 17 patients with kyphoscoliotic Ehlers-
Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and
mutational spectrum and description of the natural history. Genet Med 2017 J
Janecke AR, Li B, Boehm M, et al. The phenotype of the musculocontractural type of
Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A 2016
Ericson W, Wolman R. Orthopaedic management of the Ehlers-Danlos syndromes. Am J
Med Genet Part C Semin Med Genet 2017https://www.service-public.fr/particuliers/vosdroits/F21392