It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.
现在几乎可以确定，脆性骨综合征是由I型胶原蛋白α链的多种突变引起的。虽然不断增加的生化知识有时使产前诊断成为可能，但对严重身体残疾者的护理仍然是一项临床挑战，而且并非总能应对。因此，对这种疾病的未来研究既需要临床研究也需要生化研究。
