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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

Authors :
Nikhil Shah
Vaman Khadilkar
Madhura Karguppikar
Anuradha Khadilkar
Source :
BMJ Case Reports. 14:e242349
Publication Year :
2021
Publisher :
BMJ, 2021.

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.

Details

ISSN :
1757790X
Volume :
14
Database :
OpenAIRE
Journal :
BMJ Case Reports
Accession number :
edsair.doi.dedup.....7495c2433486060d1322244bcd951607
Full Text :
https://doi.org/10.1136/bcr-2021-242349