Searchable abstracts of presentations at key conferences in endocrinology

ea0094oc1.5 | Bone and Calcium | SFEBES2023

CTNNB1 pathogenic variants can cause an autosomal dominant osteoporosis-pseudoglioma-like syndrome: a new form of osteogenesis imperfecta?

Lazarus Syndia , Nicolas Boyer Pierre , Duncan Emma

A 27-year-old woman with familial exudative vitreoretinopathy (FEVR) experienced multiple childhood fractures, including wrist (aged 7y), hip (aged 10y) and numerous vertebrae. She had low bone mineral density (BMD) (Z scores < -2.5 at multiple sites aged 9; persistently low BMD as an adult) and was short (height below 1st centile). Other features included an unusual facies and mild intellectual impairment. Her mother also had FEVR, dental hypoplasia, mild intellectual imp...