Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA.
Am J Med Genet A. 2010 Dec;152A(12):2943-6. doi: 10.1002/ajmg.a.33614.
Approximately three quarters of children with birth defects have anomalies that affect the craniofacial structures. Defects in this area of the body result in lifelong disability, major challenges to families and society and often a serious effect on life expectancy. Surgery has been the primary intervention for these disorders, with frequently less than optimal outcomes and risk for additional morbidity and mortality. The challenge for clinicians caring for these children is to develop new methods for the treatment and prevention of these disorders. An understanding of the evolution of the head and the finely tuned temporospatial signaling pathways involved is critical to understanding the origins of the vertebrates as well as of human craniofacial malformations. In the future, these new approaches will be based upon our enhanced understanding of the developmental tool kit fashioned by evolution and the application of this knowledge toward the development of new diagnostic, pharmacologic, and genetic interventions for these disorders.
大约四分之三的出生缺陷儿童有影响颅面结构的异常。该身体区域的缺陷会导致终身残疾,给家庭和社会带来重大挑战,并且通常严重影响预期寿命。手术一直是这些疾病的主要干预手段,但结果常常不尽如人意,并且存在额外发病率和死亡率的风险。照顾这些孩子的临床医生面临的挑战是开发治疗和预防这些疾病的新方法。了解头部的进化以及涉及的精细时空信号通路对于理解脊椎动物的起源以及人类颅面畸形的起源至关重要。将来,这些新方法将基于我们对进化形成的发育工具包的深入了解,以及将这些知识应用于这些疾病的新诊断,药理和遗传干预措施的开发。