Hamm J Austin, Robin Nathaniel H
Department of Genetics, The University of Alabama at Birmingham, 213 Kaul Human Genetics Building, 720 20th Street South, Birmingham, AL 35294, USA.
Department of Genetics, The University of Alabama at Birmingham, 213 Kaul Human Genetics Building, 720 20th Street South, Birmingham, AL 35294, USA; Department of Pediatrics, The University of Alabama at Birmingham, 1600 7th Avenue South, CPPI 310, Birmingham, AL 35233, USA; Division of Otolaryngology, Department of Surgery, The University of Alabama at Birmingham, 563 Boshell Building, Birmingham, AL 35294, USA.
Clin Perinatol. 2015 Jun;42(2):321-36, viii. doi: 10.1016/j.clp.2015.02.005. Epub 2015 Apr 15.
Craniofacial malformations are among the most common birth defects. Although most cases of orofacial clefting and craniosynostosis are isolated and sporadic, these abnormalities are associated with a wide range of genetic syndromes, and making the appropriate diagnosis can guide management and counseling. Patients with craniofacial malformation are best cared for in a multidisciplinary clinic that can coordinate the care delivered by a diverse team of providers.
颅面畸形是最常见的出生缺陷之一。尽管大多数口面部裂和颅缝早闭病例是孤立且散发的,但这些异常与多种遗传综合征相关,做出恰当的诊断有助于指导治疗和咨询。颅面畸形患者最好在多学科诊所接受治疗,该诊所能够协调由不同医疗人员组成的团队所提供的护理。