Show Summary Details
Page of

Eponymous syndromes 

Eponymous syndromes
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 24 July 2021

Chapter 14: Eponymous syndromes

1 Saxena R. Alport syndrome treatment and management. Medscape; 2015. http://emedicine.medscape.com/article/238260-overview

2 Heidet L et al. The renal lesions of Alport syndrome. J Am Soc Nephrol 2009;20(6):1210–15. PubMed ID: 19470679. http://www.ncbi.nlm.nih.gov/pubmed/19470679Find this resource:

3 Tobin JL et al. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007;22(7):926–36. PubMed ID: 17357787. http://www.ncbi.nlm.nih.gov/pubmed/17357787Find this resource:

4 Bennett MJ et al. The neuronal ceroid-lipofuscinoses. Dev Disabil Res Rev 2013;17(3):254–9. PMID: 23798013. http://www.ncbi.nlm.nih.gov/pubmed/23798013Find this resource:

5 Genetics Home Reference. Beckwith–Wiedemann syndrome. GHR; 2015. http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome

6 Tuberous Sclerosis Alliance. Tuberous sclerosis complex diagnostic criteria 2012. http://www.tsalliance.org/about-tsc/how-is-tsc-diagnosed/

7 eMedicine. Castleman disease. https://emedicine.medscape.com/article/2219018-overview

8 eMedicine. Chediak-Higashi syndrome. http://emedicine.medscape.com/article/1114607-overview

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. http://www.ncbi.nlm.nih.gov/pubmed/11857544Find this resource:

10 OMIN. Chondrodysplasia puncata, #302960. http://omim.org/entry/302960

11 OMIN. Cornelia de Lange syndrome; CDLS1, #122470. http://omim.org/entry/122470

12 OMIN. Diamond-Blackfan anaemia, #105650. http://www.omim.org/entry/105650

13 Verlinsky Y et al. Preimplantation HLA testing. JAMA 2004;291(17):2079–85. PubMed ID: 15126435. http://pubmedhh.nlm.nih.gov/cgi-bin/abstract.cgi?id=15126435&from=cqsrFind this resource:

14 Hatcher S. Assessment and management of medically unexplained symptoms. BMJ 2008;336:1124. PubMed ID: 18483055. http://www.ncbi.nlm.nih.gov/pubmed/18483055

15 Rosendal M. Management of medically unexplained symptoms. BMJ 2005;330:4–5. PubMed ID: 15626783. http://bmj.bmjjournals.com/cgi/content/full/330/7481/4?ehom

16 Patient.co.uk. Di-Guglielmo’s-syndrome. http://www.patient.co.uk/doctor/Di-Guglielmo's-Syndrome.htm

17 Matthews E et al. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev 2016;5:CD003725. chttp://www.cochrane.org/CD003725/NEUROMUSC_corticosteroid-therapy-duchenne-muscular-dystrophy

18 Efficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy. https://clinicaltrials.gov/ct2/show/NCT01540409

19 eMedicine. Trisomy 18. http://emedicine.medscape.com/article/943463-overview#a0101

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. https://clinicaltrials.gov/ct2/show/NCT01331018

22 eMedicine. Ganser syndrome. http://emedicine.medscape.com/article/287390-overview

23 eMedicine. Gaucher disease. http://emedicine.medscape.com/article/944157

24 eMedicine. Hartnup disease. http://emedicine.medscape.com/article/1115549-overview

25 eMedicine. Genetics of mucopolysaccharidosis type II. http://emedicine.medscape.com/article/944723-overview

26 eMedicine. Genetics of mucopolysaccharidosis type I. http://emedicine.medscape.com/article/1599374-overview

27 eMedicine. Karteagener syndrome. http://emedicine.medscape.com/article/299299-overview

28 eMedicine. Kawasaki disease. https://emedicine.medscape.com/article/965367-overview

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. http://circ.ahajournals.org/content/103/2/335.full

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. http://www.ncbi.nlm.nih.gov/m/pubmed/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. http://www.ncbi.nlm.nih.gov/pubmed/21940691Find 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. http://www.ncbi.nlm.nih.gov/pubmed/11841138Find 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. . http://www.ncbi.nlm.nih.gov/pubmed/23572165Find 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. https://www.ncbi.nlm.nih.gov/pubmed/27560971Find 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. http://www.ncbi.nlm.nih.gov/pubmed/21721045Find 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. https://www.ncbi.nlm.nih.gov/pubmed/1808627Find this resource:

37 Malkin D. Li-Fraumeni syndrome. Genes Cancer 2011;2(4):475484. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135649/?tool=pubmedFind 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. http://www.ncbi.nlm.nih.gov/m/pubmed/22004116/?i=6&from=Li%E2%80%93Fraumeni

39 eMedicine. Sphingomyelinase deficiency. http://emedicine.medscape.com/article/951564-overview

40 eMedicine. Noonan syndrome. http://emedicine.medscape.com/article/947504-overview

41 Chrichton P. Did Othello have ‘the Othello syndrome’? J Forensic Psychiatry 1996;7;1:161–9. http://www.tandfonline.com/doi/abs/10.1080/09585189608409924#.UuGJpdJFDUI

42 eMedicine. Patau syndrome. http://www.emedicine.com/ped/topic1745.htm

43 eMedicine. McCune–Albright syndrome. http://emedicine.medscape.com/article/127233-overview

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. https://www.ncbi.nlm.nih.gov/pubmed/28371242Find this resource:

45 eMedicine: Rett syndrome. https://emedicine.medscape.com/article/916377-overview#a1

46 eMedicine. Reye syndrome. http://emedicine.medscape.com/article/803683-overview

47 Adams J. Imprinting and genetic disease: Angelman, Prader-Willi and Beckwith-Weidemann syndromes. Nat Educ 2008;1(1):129. http://www.nature.com/scitable/topicpage/imprinting-and-genetic-disease-angelman-prader-willi-923Find this resource:

48 eMedicine. JIA clinical presentation. http://emedicine.medscape.com/article/1007276-clinical#aw2aab6b3b3aa

49 NICE. Abatacept, adalimumab, etanercept and tocilizumab for treating juvenile idiopathic arthritis. Technology appraisal guidance (TA373). NICE 2015. https://www.nice.org.uk/guidance/ta373

50 Cardoso F. Sydenham’s chorea. Handb Clin Neurol 2011;100:221–9. PubMed ID: 2149658. http://www.ncbi.nlm.nih.gov/pubmed/21496581

51 PatientPlus patient.co.uk. Turner syndrome. http://www.patient.co.uk/doctor/Turner's-Syndrome.htm#ref-2

52 Froissart R et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 2011;6:27. PMID 21599942. http://www.ncbi.nlm.nih.gov/pubmed/21599942

53 eMedicine. Werner syndrome. http://emedicine.medscape.com/article/1114125-overview