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  • Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome

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Case report
Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
  1. Madhura Bharat Karguppikar1,
  2. Nikhil Shah1,
  3. Vaman Khadilkar1,2 and
  4. Anuradha Khadilkar1,2
  1. 1Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India
  2. 2Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India
  1. Correspondence to Dr Anuradha Khadilkar; anuradhavkhadilkar{at}gmail.com

Abstract

We present a 7-year-old girl with Rubinstein-Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE). She underwent bilateral arthroscopy with implant fixation for the SCFE and the symptoms resolved. This was followed by fracture of the femur after minor trauma. Dual energy X-ray absorptiometry (DXA) scan done to evaluate her bone health revealed a low bone mineral density (BMD). Our case highlights the finding of low BMD on DXA and rare association of SCFE in a child with RTS. The conundrum in this case is whether this child can be labelled to have osteoporosis as defined by the criteria given by the International Society for Clinical Densitometry guidelines.

  • congenital disorders
  • calcium and bone

https://doi.org/10.1136/bcr-2021-242349

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    Footnotes

    • Contributors All authors contributed to the diagnosis, management of the case and to writing of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.