Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome.
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.
['Karguppikar|Madhura Bharat|MB|', 'Shah|Nikhil|N|', 'Khadilkar|Vaman|V|', 'Khadilkar|Anuradha|A|http://orcid.org/0000-0001-9832-7033']
D015502:Absorptiometry, Photon D001851:Bone Diseases, Metabolic D002648:Child D005260:Female D006801:Humans D010024:Osteoporosis D012415:Rubinstein-Taybi Syndrome D060048:Slipped Capital Femoral Epiphyses
calcium and bone congenital disorders