Skip to main content

Advertisement

Log in

Ehlers–Danlos syndrome: what the radiologist needs to know

  • Child abuse imaging
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Ehlers–Danlos syndrome is a real diagnosis that is erroneously used to explain multiple fractures in suspected child abuse. This paper reviews the clinical and molecular diagnostic criteria for Ehlers–Danlos syndrome. This knowledge can help prevent misdiagnosis and support clinicians when evaluating infants and young children with multiple fractures.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. U.S. Department of Health and Human Services, Administration for Children and Families, Administration on Children, Youth and Families (2019) Child maltreatment 2017. U.S. Government Printing Office, Washington, DC, p 234

    Google Scholar 

  2. American Cancer Society (2018) Key statistics for Wilms tumors. In: Cancer A-Z. American Cancer Society website. https://www.cancer.org/content/dam/CRC/PDF/Public/8878.00.pdf. Accessed 3 June 2020

  3. American Cancer Society (2020) Key statistics about neuroblastoma. In: Cancer A-Z. American Cancer Society website. https://www.cancer.org/content/dam/CRC/PDF/Public/8758.00.pdf. Accessed 3 June 2020

  4. Christian CW, American Academy of Pediatrics Committee on Child Abuse & Neglect (2015) The evaluation of suspected child physical abuse. Pediatrics 135:e1337–e1354

    Article  PubMed  Google Scholar 

  5. Flaherty EG, Perez-Rossello JM, Levine MA et al (2014) Evaluating children with fractures for child physical abuse. Pediatrics 133:e477–e489

    Article  PubMed  Google Scholar 

  6. Flaherty EG, Sege RD, Griffith J et al (2008) From suspicion of physical child abuse to reporting: primary care clinician decision-making. Pediatrics 122:611–619

    Article  PubMed  Google Scholar 

  7. Greeley CS (2015) Evidence-based radiology and child abuse. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 309–323

    Chapter  Google Scholar 

  8. Brown SD, Moreno JA, Shur N, Servaes S (2020) Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub's flawed theories about child abuse and metabolic bone disease. J Pediatr Endocrinol Metab 33:547–548

    Article  PubMed  Google Scholar 

  9. Holm I, Pérez-Rosselló JM (2015) Differential diagnosis II: disorders of calcium and phosphorus metabolism. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 240–253

    Chapter  Google Scholar 

  10. Kleinman PK (2015) Differential diagnosis V: obstetric trauma. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 279–289

    Chapter  Google Scholar 

  11. Kleinman PK (2015) Differential diagnosis IV: accidental trauma. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 268–278

  12. Kleinman PK, Brill PW (2015) Differential diagnosis I: diseases, dysplasias and syndromes simulating abuse. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 217–239

    Chapter  Google Scholar 

  13. Krakow D, Lachman RS, Kleinman PK (2015) Differential diagnosis III: osteogenesis imperfecta. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 254–267

    Chapter  Google Scholar 

  14. Kleinman PK, Walters MM (2015) Dating fractures. In: Kleinman PK (ed) Diagnostic imaging of child abuse, 3rd edn. Cambridge University Press, Cambridge, pp 208–216

    Chapter  Google Scholar 

  15. Bronicki LM, Stevenson RE, Spranger JW (2015) Beyond osteogenesis imperfecta: causes of fractures during infancy and childhood. Am J Med Genet C Semin Med Genet 169:314–327

    Article  PubMed  Google Scholar 

  16. Pepin MG, Byers PH (2015) What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases. Am J Med Genet C Semin Med Genet 169:307–313

    Article  CAS  PubMed  Google Scholar 

  17. Brady AF, Demirdas S, Fournel-Gigleux S et al (2017) The Ehlers–Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet 175:70–115

    Article  PubMed  Google Scholar 

  18. Castori M (2015) Ehlers–Danlos syndrome(s) mimicking child abuse: is there an impact on clinical practice? Am J Med Genet C Semin Med Genet 169:289–292

    Article  PubMed  Google Scholar 

  19. Castori M (2016) Correction: Ehlers–Danlos syndrome(s) mimicking child abuse: is there an impact on clinical practice? Am J Med Genet A 170:1947

    Article  PubMed  Google Scholar 

  20. Shirley ED, Demaio M, Bodurtha J (2012) Ehlers–Danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health 4:394–403

    Article  PubMed  PubMed Central  Google Scholar 

  21. Holick MF, Hossein-Nezhad A, Tabatabaei F (2017) Multiple fractures in infants who have Ehlers–Danlos/hypermobility syndrome and or vitamin D deficiency: a case series of 72 infants whose parents were accused of child abuse and neglect. Dermatoendocrinol 9:e1279768

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Malfait F, Francomano C, Byers P et al (2017) The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet 175:8–26

    Article  PubMed  Google Scholar 

  23. Tinkle B, Castori M, Berglund B et al (2017) 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 175:48–69

    Article  PubMed  Google Scholar 

  24. Beighton P, Solomon L, Soskolne CL (1973) Articular mobility in an African population. Ann Rheum Dis 32:413–418

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Öhman A (2015) Beighton scores for healthy infants at the age of three months. Open J Ther Rehab 3:40–45

    Article  Google Scholar 

  26. The International Consortium on Ehlers–Danlos Syndromes & Related Disorders (2020) Diagnostic criteria for hypermobile Ehlers–Danlos syndrome (hEDS). The Ehlers Danlos Society website. https://www.ehlers-danlos.com/heds-diagnostic-checklist/. Accessed 29 May 2020

  27. Basalom S, Rauch F (2020) Bone disease in patients with Ehlers–Danlos syndromes. Curr Osteoporos Rep 18:95–102

    Article  PubMed  Google Scholar 

  28. Rolfes MC, Deyle DR, King KS et al (2019) Fracture incidence in Ehlers–Danlos syndrome — a population-based case-control study. Child Abuse Negl 91:95–101

    Article  PubMed  PubMed Central  Google Scholar 

  29. Stern CM, Pepin MJ, Stoler JM et al (2017) Musculoskeletal conditions in a pediatric population with Ehlers–Danlos syndrome. J Pediatr 181:261–266

    Article  PubMed  Google Scholar 

  30. Bar-Yosef O, Polak-Charcon S, Hoffman C et al (2008) Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am J Med Genet A 146A:3054–3057

    Article  PubMed  Google Scholar 

  31. Solomons J, Coucke P, Symoens S et al (2013) Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. Am J Med Genet A 161A:1122–1125

    Article  PubMed  Google Scholar 

  32. Malfait F, Kariminejad A, Van Damme T et al (2013) Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers–Danlos-syndrome-like connective tissue disorder. Am J Hum Genet 92:935–945

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Malfait F, Symoens S, Goemans N et al (2013) Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an osteogenesis imperfecta/Ehlers–Danlos syndrome overlap syndrome. Orphanet J Rare Dis 8:78

    Article  PubMed  PubMed Central  Google Scholar 

  34. Morlino S, Micale L, Ritelli M et al (2020) COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers–Danlos syndrome overlap. Clin Genet 97:396–406

    Article  CAS  PubMed  Google Scholar 

  35. Byers PH, Murray ML (2014) Ehlers–Danlos syndrome: a showcase of conditions that lead to understanding matrix biology. Matrix Biol 33:10–15

    Article  CAS  PubMed  Google Scholar 

  36. Fidler AL, Boudko SP, Rokas A, Hudson BG (2018) The triple helix of collagens — an ancient protein structure that enabled animal multicellularity and tissue evolution. J Cell Sci 131:jcs203950

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  37. Mayer K, Kennerknecht I, Steinmann B (2013) Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants — update 2012. Eur J Hum Genet 21

  38. U.S. National Library of Medicine (2020) Ehlers–Danlos syndrome. Genetics home reference website. https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#inheritance. Accessed 26 May 2020

  39. U.S. National Library of Medicine (2020) Osteogenesis imperfecta. Genetics home reference website. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta. Accessed 26 May 2020

  40. Shur N, Carey JC (2015) Genetic differentials of child abuse: is your case rare or real? Am J Med Genet C Semin Med Genet 169:281–288

    Article  PubMed  Google Scholar 

  41. Paterson CR, Mole PA (2011) Joint laxity in the parents of children with temporary brittle bone disease. Rheumatol Int 32:2843–2846

    Article  PubMed  Google Scholar 

  42. Day H, Koutedakis Y, Wyon MA (2011) Hypermobility and dance: a review. Int J Sports Med 32:485–489

    Article  CAS  PubMed  Google Scholar 

  43. Russek LN, Errico DM (2016) Prevalence, injury rate and, [sic] symptom frequency in generalized joint laxity and joint hypermobility syndrome in a "healthy" college population. Clin Rheumatol 35:1029–1039

    Article  PubMed  Google Scholar 

  44. Smits-Engelsman B, Klerks M, Kirby A (2011) Beighton score: a valid measure for generalized hypermobility in children. J Pediatr 158:119–123

    Article  PubMed  Google Scholar 

  45. Paterson CR, Monk EA (2013) Temporary brittle bone disease: association with intracranial bleeding. J Pediatr Endocrinol Metab 26:417–426

    Article  PubMed  Google Scholar 

  46. Mendelson KL (2005) Critical review of 'temporary brittle bone disease'. Pediatr Radiol 35:1036–1040

    Article  PubMed  Google Scholar 

  47. Leventhal JM, Edwards GA (2017) Flawed theories to explain child physical abuse: what are the medical-legal consequences? JAMA 318:1317–1318

    Article  PubMed  Google Scholar 

  48. Chadwick DL, Krous HF (1997) Irresponsible testimony by medical experts in cases involving the physical abuse and neglect of children. Child Maltreat 2:313–321

    Article  Google Scholar 

  49. Choudhary AK, Servaes S, Slovis TL et al (2018) Consensus statement on abusive head trauma in infants and young children. Pediatr Radiol 48:1048–1065

    Article  PubMed  Google Scholar 

  50. Shur N (2019) A case of broken bones and systems: the threat of irresponsible testimony. Am J Med Genet A 179:429–434

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Jeannette M. Peréz-Rosselló.

Ethics declarations

Conflicts of interest

None

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

George, M.P., Shur, N.E. & Peréz-Rosselló, J.M. Ehlers–Danlos syndrome: what the radiologist needs to know. Pediatr Radiol 51, 1023–1028 (2021). https://doi.org/10.1007/s00247-020-04856-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-020-04856-1

Keywords

Navigation