Grange Syndrome (GRNG)
摘要
Grange et al. described a family in which four of nine sibs had a unique syndrome with stenosis or occlusion of multiple arteries mainly renal, abdominal, cerebral, and coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities (Grange et al. 1998). Arterial occlusive disease was similar in distribution and clinical outcome to fibromuscular dysplasia (FMD), and bone fragility was similar to mild osteogenesis imperfecta (OI) (Grange et al. 1998). Grange syndrome is an extremely rare disease (<1/1,000,000) with severe and premature vascular disease characterized by stenosis or occlusion of the arteries, primarily the renal, cerebral, and abdominal arteries (Orphanet 2024). Grange syndrome is very rare and to date, only 12 patients have been reported with this syndrome. Most people with this syndrome also have heart defects that are present from birth (Saida et al. 2019). All the clinical manifestations are shown in Table 1 (Online Mendelian Inheritance in Man O 2023).