Courtesy of Trident Photographic Services
UK and US teams independently pinpointed a gene for Cornelia de Lange syndrome (CdLS), ending a 15-year search.12 Tests for the disorder may be forthcoming. CdLS occurs in 1 in 30,000–40,000 births, causing debilitating growth problems and deformities as well as behavioral difficulties. Misdiagnoses can result in patients succumbing to potentially fatal problems such as twisted bowel.
Independently, Tom Strachan1 at University of Newcastle, UK, and Ian Krantz2 at the Children's Hospital of Philadelphia and their colleagues linked the disease to sporadic mutations in