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Eponymous syndromes 

Eponymous syndromes
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date: 02 July 2022

Chapter 14: Eponymous syndromes

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

6 Tuberous Sclerosis Alliance. Tuberous sclerosis complex diagnostic criteria 2012.

7 eMedicine. Castleman disease.

8 eMedicine. Chediak-Higashi syndrome.

9 Karim MA. Apparent genotype-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.

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16 Di-Guglielmo’s-syndrome.'s-Syndrome.htm

17 Matthews E et al. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev 2016;5:CD003725. c

18 Efficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy.

19 eMedicine. Trisomy 18.

20 Hakim A et al. (eds) Ehlers-Danlos syndrome. In: Oxford handbook of rheumatology, 3rd ed. Oxford: Oxford University Press; 2011, pp468–9.Find this resource:

21 Gene Therapy for Fanconi Anemia.

22 eMedicine. Ganser syndrome.

23 eMedicine. Gaucher disease.

24 eMedicine. Hartnup disease.

25 eMedicine. Genetics of mucopolysaccharidosis type II.

26 eMedicine. Genetics of mucopolysaccharidosis type I.

27 eMedicine. Karteagener syndrome.

28 eMedicine. Kawasaki disease.

29 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.

30 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.

31 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:

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

33 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:

34 Greiss HL et al. A randomized, double-blind, placebo-controlled trial of low-dose sertraline in young children with fragile X syndrome. J Dev Behav Pediatr 2016;37(8):619–28. this resource:

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

36 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:

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

38 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.

39 eMedicine. Sphingomyelinase deficiency.

40 eMedicine. Noonan syndrome.

41 Chrichton P. Did Othello have ‘the Othello syndrome’? J Forensic Psychiatry 1996;7;1:161–9.

42 eMedicine. Patau syndrome.

43 eMedicine. McCune–Albright syndrome.

44 Miller JL et al. Oxytocin treatment in children with Prader-Willi syndrome: a double-blind, placebo-controlled, crossover study. Am J Med Genet A 2017;173(5):1243–50. this resource:

45 eMedicine: Rett syndrome.

46 eMedicine. Reye syndrome.

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

48 eMedicine. JIA clinical presentation.

49 NICE. Abatacept, adalimumab, etanercept and tocilizumab for treating juvenile idiopathic arthritis. Technology appraisal guidance (TA373). NICE 2015.

50 Cardoso F. Sydenham’s chorea. Handb Clin Neurol 2011;100:221–9. PubMed ID: 2149658.

51 PatientPlus Turner syndrome.'s-Syndrome.htm#ref-2

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

53 eMedicine. Werner syndrome.