Skip to main content

Advertisement

Log in

Pediatric radiology in the diagnosis and management of skeletal dysplasias — welcome to the era of genomic medicine and modern drug pipelines

  • Minisymposium: Imaging of skeletal dysplasia
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Radiologists have long played a key role in the diagnosis and management of children with suspected skeletal dysplasia. Advancing molecular sciences, including the emergence of next generation sequencing and the development of modern rapid drug pipelines have the potential to transform this role.

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. Mortier GR, Cohn DH, Cormier-Daire V et al (2019) Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 179:2393–2419

    Article  PubMed  Google Scholar 

  2. Offiah AC, Hall CM (2019) The radiologic diagnosis of skeletal dysplasias: past, present and future. Pediatr Radiol. https://doi.org/10.1007/s00247-019-04533-y

  3. Calder AD, Gaunt T, Hickson M et al (2019) Major skull manifestations of skeletal dysplasias — pictorial essay. Pediatr Radiol. https://doi.org/10.1007/s00247-019-04473-7

  4. Sarioglu FC, Sarioglu O, Guleryuz H (2020) Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. https://doi.org/10.1007/s00247-020-04841-8

  5. Schirwani S, Campbell J (2020) Genetics for paediatric radiologists. Pediatr Radiol. https://doi.org/10.1007/s00247-020-04837-4

  6. Whyte MP, Madson KL, Phillips D et al (2016) Asfotase alfa therapy for children with hypophosphatasia. JCI Insight 1:e85971

    Article  PubMed  PubMed Central  Google Scholar 

  7. Breinholt VM, Rasmussen CE, Mygind PH et al (2019) TransCon CNP, a sustained-release C-type natriuretic peptide prodrug, a potentially safe and efficacious new therapeutic modality for the treatment of comorbidities associated with fibroblast growth factor receptor 3-related skeletal dysplasias. J Pharmacol Exp Ther 370:459–471

    Article  CAS  PubMed  Google Scholar 

  8. Garcia S, Dirat B, Tognacci T et al (2013) Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. Sci Transl Med 5:203ra124

    PubMed  Google Scholar 

  9. Komla-Ebri D, Dambroise E, Kramer I et al (2016) Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. J Clin Invest 126:1871–1884

    Article  PubMed  PubMed Central  Google Scholar 

  10. Mullan LA, Mularczyk EJ, Kung LH et al (2017) Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism. J Clin Invest 127:3861–3865

    Article  PubMed  PubMed Central  Google Scholar 

  11. Posey KL, Hecht JT (2017) Novel therapeutic interventions for pseudoachondroplasia. Bone 102:60–68

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Inubushi T, Lemire I, Irie F, Yamaguchi Y (2018) Palovarotene inhibits osteochondroma formation in a mouse model of multiple hereditary exostoses. J Bone Miner Res 33:658–666

    Article  CAS  PubMed  Google Scholar 

  13. Chakkalakal SA, Uchibe K, Convente MR et al (2016) Palovarotene inhibits heterotopic ossification and maintains limb mobility and growth in mice with the human ACVR1(R206H) fibrodysplasia ossificans progressiva (FOP) mutation. J Bone Miner Res 31:1666–1675

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Alistair D. Calder.

Ethics declarations

Conflicts of interest

Dr. Irving has consultancy agreements with Biomarin, QED Therapeutics, Pfizer/Therachon and Ascendis. There are no further conflicts of interest.

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

Calder, A.D., Irving, M. Pediatric radiology in the diagnosis and management of skeletal dysplasias — welcome to the era of genomic medicine and modern drug pipelines. Pediatr Radiol 50, 1648–1649 (2020). https://doi.org/10.1007/s00247-020-04858-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-020-04858-z

Navigation