Endocrine Abstracts

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...