Saal Howard M
Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA.
Facial Plast Surg Clin North Am. 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001.
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management. This is an overview of the major components of the clinical genetics evaluation with a review of many syndromes associated with craniofacial disorders.
颅面疾病有数千种，每种疾病的病因都不同。所有口面部裂隙病例都有潜在的遗传原因，范围从具有潜在遗传易感性的多因素病因到染色体和单基因病因。超过50%的Pierre Robin序列病例是综合征性的，25%的颅缝早闭是综合征性的。临床遗传学评估对于每一位患有颅面疾病的患者进行正确诊断、为家庭提供咨询并协助管理都很重要。这是临床遗传学评估主要组成部分的概述，并回顾了许多与颅面疾病相关的综合征。
