Question for the skeletal dysplasia gurus out there…
Asked for an opinion on this 35 yr old female with:
Epilepsy as part of Glass syndrome (SATB2 mutation). High ALP of 288 from bone and other bone turnover markers elevated. High BMD, abnormal isotope bone scan and abnormal skeletal survey.
An international genetics guru was consulted following the biochem findings and imaging findings, which are the reverse of what is expected in SATB2 mutation. Usually are osteopaenic, low T scores, etc.
There’s a bit more clinical history below for those interested. Her bones show bilateral symmetric sclerosis of the axial and appendicular skeleton. It doesn’t fit nicely into any skeletal dysplasia I or my local guru can think of. I think her bones are soft as well as dense, ? early shepherd’s crook deformity proximal right femur.
Any thoughts, anyone?
Thanks in advance.
Hi Rob and John,
She was identified as having global developmental delay at 18 months and subsequently intellectual disability and dyspraxia of speech.
She does have a funny looking phenotype – she’s had a number of dental implants to correct dental crowding from her condition and has a high arched palate, ears were normal. She was not short in stature – after she left it occurred to me that her height wasn’t recorded when she came in so apologies for not having that information. Aside from a stooped posture, I did not identify anything else by way of odd MSK phenotypic features (arthritis, enthesitis, calcifications etc).
I’ve attached two papers on the bone phenotype associated with SATB2 and most patients seem to have low bone density, often exceeding Z scores of -2.0 in young patients. Certainly no cases of apparent increased bone density though. For some reason this other article is paywalled for me but you might have access DOI: 10.1002/ajmg.a.38630
I’ll forward on correspondence from Dr Yuri Zarate, a world expert on SATB2 associated syndrome who published the 2017 clinical genetics paper and the other paper I’ve linked. He was in agreement that the findings are odd and made some suggestions for next steps.
Look forward to hearing your thoughts and thanks for taking an interest!
Glass syndrome and skeletal dysplasia.pptx
