Deshpande Anita S, Goudy Steven L
From the Department of Otolaryngology-Head and Neck Surgery Emory University School of Medicine Atlanta Georgia U.S.A.
Laryngoscope Investig Otolaryngol. 2018 Nov 15;4(1):160-164. doi: 10.1002/lio2.214. eCollection 2019 Feb.
Cleft lip and palate are common craniofacial deformities. The etiology underlying these deformities is complex and multifactorial and they can occur as part of one of many chromosomal syndromes, Mendelian single gene disorders, teratogenic effects, and as yet uncharacterized syndromes. Our paper will provide an overview of the multiple genes and molecular pathways that have been implicated in palatal fusion. We believe that understanding the molecular mechanisms of cleft formation can help clinicians anticipate which patients may have difficulties healing and in the future allow them to make surgical and medical treatment decisions based on genetic information.
唇腭裂是常见的颅面畸形。这些畸形的病因复杂且具有多因素性，它们可能作为多种染色体综合征、孟德尔单基因疾病、致畸效应以及尚未明确特征的综合征之一的一部分而出现。我们的论文将概述与腭融合相关的多个基因和分子途径。我们认为，了解腭裂形成的分子机制有助于临床医生预测哪些患者可能愈合困难，并在未来使他们能够根据遗传信息做出手术和医疗治疗决策。
