Skip to main content
Log in

Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome

  • Published:
Journal of Ultrasound Aims and scope Submit manuscript

Abstract

Prenatal sonographic depiction of congenital vertical talus (rocker bottom feet), describing a prominent calcaneus and rounded convex appearance of the ventral aspect of the foot, has been reported with fetal Trisomies 18, 13, 9 HOXD10 mutations and recently 2q13 microdeletion. We present a 24 year old in whom mid-trimester sonographic finding of isolated bilateral rocker bottom feet led to diagnosis of 7q11.23 microdeletion—Williams syndrome. This association has not been reported previously. This case emphasizes the critical assessment of detail microarray upon prenatal sonographic notation of abnormal structural fetal features.

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.

Fig. 1

Similar content being viewed by others

References

  1. Shrimpton AE, Levinsohn EM, Yosawitz JM, Packard DS Jr, Cady RB, Middleton FA et al (2005) A HOX gene mutation in a family with isolated congenital vertical talus and Charccot-Marie Tooth disease. Am J Hum Genet 75:92–96. https://doi.org/10.1086/422015

    Article  Google Scholar 

  2. Rubio EI, Mehta N, Blask AR, Bulas DI (2017) Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies. Pediatr Radiol 47:1793–1799. https://doi.org/10.1007/s00247-017-3957-z

    Article  PubMed  Google Scholar 

  3. Sherer DM, Hiseh V, Muppala R, Granderson F, Dalloul M (2020) Isolated bilateral rocker bottom feet associated with 2q13 microdeletion. J Ultrasound Med 39:637–638. https://doi.org/10.1002/jum.15132

    Article  PubMed  Google Scholar 

  4. Morris CA (1999) Williams syndrome. Gene reviews. https://www.ncbi.nlm.gov/books/NBK1249. Accessed 23 Mar 2017

  5. Jones KL (2006) Williams syndrome. In: Jones KL (ed) Recognizable patterns of human malformation, 6th edn. Elsevier Saunders, Philadelphia, pp 121–122

    Google Scholar 

  6. Gregory MD, Mervis CB, Elliott ML, Kippenham JS, Nash T, Czarapata JB et al (2019) Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional activity. Brain 142(12):3963–3974. https://doi.org/10.1093/brain/awz323

    Article  PubMed  PubMed Central  Google Scholar 

  7. Cha SG, Song MK, Lee SY, Kim GB, Kwak JG, Kim WH et al (2019) Long-term cardiovascular outcome of Williams syndrome. Congenit Heart Dis 14(5):684–690. https://doi.org/10.1111/chd.12810

    Article  PubMed  Google Scholar 

  8. Twite MD, Stenquist S, Ing RJ (2019) Williams syndrome. Paediatr Anaesth 29(5):483–490. https://doi.org/10.1111/pan.13620

    Article  PubMed  Google Scholar 

  9. Stromme P, Bjornstad PG, Ramstad K (2002) Prevalence estimation of Williams syndrome. J Child Neurol 17:269–271. https://doi.org/10.1177/088307380201700406

    Article  PubMed  Google Scholar 

  10. Marcato L, Turolla L, Pompilii E, Dupont C, Grcuhy N, De Toffol S et al (2014) Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome. Clin Case Rep 2(2):25–32. https://doi.org/10.1002/ccr3.48

    Article  PubMed  PubMed Central  Google Scholar 

  11. Morris CA, Thomas IT, Greenberg F (1993) Williams syndrome: autosomal dominant inheritance. Am J Med Genet 47:478

    Article  CAS  Google Scholar 

  12. Dang Y, Wan S, Zheng Y, Song T, Li C, Li Y et al (2020) The prenatal diagnosis of seven fetuses with 7q11.23 microdeletion or microduplication. Fetal Pediatr Pathol 39(4):269–276. https://doi.org/10.1080/15513815.2019.1651802

    Article  PubMed  Google Scholar 

  13. Kryeminska D, Steinfeld C, Cloez JL, Vibert M, Chery M, Menzies D et al (2009) Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenat Diagn 29:710–712. https://doi.org/10.1002/pd.2263

    Article  Google Scholar 

  14. Yuan M, Deng L, Yang Y, Sun L (2020) Intrauterine phenotype features of fetuses with William-Beuren syndrome and literature review. Ann Hum Genet 84(2):169–176. https://doi.org/10.1111/ahg.12360

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The authors did not receive support from any organization for the submitted work.

Funding

The authors have no financial disclosures.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to David M. Sherer.

Ethics declarations

Conflict of interest

We have no conflict(s) of interest.

Ethical approval and informed consent

The Case reported is blinded and anonymous, hence ethics approval/consent were not required.

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

Sherer, D.M., Hsieh, V., Granderson, F. et al. Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome. J Ultrasound 25, 645–647 (2022). https://doi.org/10.1007/s40477-021-00638-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40477-021-00638-z

Keywords

Navigation