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Eponymous syndromes 

Eponymous syndromes
Oxford Handbook of Clinical Specialties (10 edn)

Chapter 10: Eponymous syndromes

1 Saxena R. Alport syndrome treatment and management. Medscape; 2015

2 Heidet L et al. The renal lesions of Alport syndrome. J Am Soc Nephrol 2009; 20(6):1210–15. PubMed ID: 19470679 this resource:

3 Tobin JL et al. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007; 22(7):926–36. PubMed ID: 17357787 this resource:

4 Bennett MJ et al. The neuronal ceroid-lipofuscinoses. Dev Disabil Res Rev 2013; 17(3):254–9. PMID: 23798013 this resource:

5 Genetics Home Reference. Beckwith–Wiedemann syndrome. GHR; 2015

6 Tuberous Sclerosis Alliance. Tuberous sclerosis complex diagnostic criteria 2012

7 Aster JC et al. Castleman’s disease. UpToDate; 2015

8 eMedicine. Chediak-Higashi syndrome

9 Karim MA. Apparent geno-type-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002; 108(1):16–22. PubMed ID: 11857544 this resource:

10 OMIN. Chondrodysplasia puncata, #302960

11 OMIN. Cornelia de Lange syndrome; CDLS1, #122470

12 OMIN. Diamond-Blackfan anaemia, #105650

13 Verlinsky Y et al. Preimplantation HLA testing. JAMA 2004; 291(17):2079–85. PubMed ID: 15126435 this resource:

14 Hatcher S. Assessment and management of medically unexplained symptoms. BMJ 2008; 336:1124. PubMed ID: 18483055 this resource:

15 Rosendal M. Management of medically unexplained symptoms. BMJ 2005; 330:4–5. PubMed ID: 15626783 this resource:

16 Niiyama Y. Capgras syndrome and possible worlds or places where the real person and its imposter coexist. Seishin Shinkeigaku Zasshi 2004; 106(3):281–303. PubMed ID: 15164577 this resource:

17 Vörös V et al. Clonal pluralization of the self’: a new form of delusional misidentification syndrome. Psychopathology 2003; 36(1):46–8. PubMed ID: 12679592 this resource:

18 Di-Guglielmo’s-syndrome’s-Syndrome.htm

19 Manzur AY et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008; 2:CD003725. PubMed ID: 15106215 this resource:

20 Sarepta Therapeutics. Efficacy study of AVI-4658 to induce dystrophin expression in selected Duchenne muscular dystrophy patients.

21 eMedicine. Trisomy 18

22 Hakim A et al. (eds) Ehlers-Danlos syndrome. In Oxford handbook of rheumatology, 3rd ed. Oxford: Oxford University Press; 2011, 468–9Find this resource:

23 Tolar J et al. Gene therapy for Fanconi anemia: one step closer to the clinic. Hum Gene Ther 2012; 23(2):141–4. PubMed ID: 22248350 this resource:

24 eMedicine. Ganser syndrome

25 eMedicine. Gaucher disease

26 eMedicine. Hartnup disease

27 eMedicine. Genetics of mucopolysaccharidosis type II

28 eMedicine. Genetics of mucopolysaccharidosis type I

29 eMedicine. Karteagener syndrome

30 Oates-Whitehead RM et al. Intravenous immunoglobulin for the treatment of Kawasaki disease in children. Cochrane Database Syst Rev 2003; 4:CD004000. PubMed ID: 14584002 this resource:

31 Kobayashi T et al. Efficacy of intravenous immunoglobulin combined with prednisolone following resistance to initial intravenous immunoglobulin treatment of acute Kawasaki disease. J Pediatr 2013; 163(2):521–6. PMID: 23485027; this resource:

32 AHA Scientific Statement. Diagnostic Guidelines for Kawasaki Disease. Council on Cardiovascular Disease in the Young Committee on Rheumatic Fever Endocarditis and Kawasaki Disease American Heart Association. Circulation 2001; 103:335–6 this resource:

33 Klopstock T et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 2011; 134(Pt 9):2677–86. PubMed ID: 21788663 this resource:

34 Deon LL et al. Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. J Child Neurol 2012; 27(1):117–20. PubMed ID: 21940691 this resource:

35 Khotianov N. Lewy body dementia: case report and discussion. J Am Board Fam Pract 2002; 15(1):50–4. PubMed ID: 11841138 this resource:

36 Leigh MJ et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr 2013; 34(3):147–55. PMID: 23572165. this resource:

37 PMID: 21721045. Biomarkers in dementia with Lewy bodies: a review. Int J Geriatr Psychiatry 2012; 27(5):443–53. PubMed ID: 21721045 this resource:

38 Lynch HT et al. Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Breast J 2008; 14(1):3–13. PubMed ID: 18086272 this resource:

39 Malkin D. Li-Fraumeni syndrome. Genes Cancer 2011; 2(4):475484. PubMed ID: this resource:

40 da Silva EM et al. TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report. BMC Cancer 2011; 11:449. this resource:

41 eMedicine. Sphingomyelinase deficiency

42 eMedicine. Noonan syndrome

43 Chrichton P. Did Othello have ‘the Othello Syndrome’? J Forensic Psychiatry 1996; 7;1:161–9 this resource:

44 eMedicine. Patau syndrome

45 Szwajkun P et al. The “Taiwanese giant“: hormonal and genetic influences in fibrous dysplasia. Ann Plast Surg 1998; 41(1):75–80. PubMed ID: 9678473 this resource:

46 eMedicine. McCune-Albright syndrome

47 Smeets Eej et al. Rett syndrome. Mol Syndromol 2012; 2(3–5): 113–27. PMC3366703 this resource:

48 eMedicine. Reye syndrome

49 Kim H et al. Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations. Korean J Pediatr 2011; 54(11):473–6. PubMed ID: 22253645 this resource:

50 Adams J. Imprinting and genetic disease: Angelman, Prader-Willi and Beckwith-Weidemann syndromes. Nat Educ 2008; 1(1):129 this resource:

51 eMedicine. JIA clinical presentation

52 NICE. NICE guidance on biologic drugs for the treatment of juvenile idiopathic arthritis (February 2012)

53 Cardoso F. Sydenham’s chorea. Handb Clin Neurol 2011; 100:221–9. PubMed ID: 21496581 this resource:

54 PatientPlus Turner Syndrome’s-Syndrome.htm#ref-2

55 Froissart R et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 2011; 6:27. PMID 21599942 this resource:

56 eMedicine. Werner syndrome

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