Markiewicz Michael R, Verschueren David, Assael Leon A
Department of Oral and Maxillofacial Surgery, Oregon Health andScience University, Portland, Oregon 97239, USA.
Cleft Palate Craniofac J. 2010 Sep;47(5):518-22. doi: 10.1597/09-034.
Chromosome 4q deletion syndrome is a monosomy that comprises all interstitial and terminal deletions of the long arm of chromosome 4. It results in a variety of phenotypes characterized by various craniofacial and bodily abnormalities. The purpose of this study is to report a case of 4q deletion syndrome and describe its clinical manifestations, with particular attention to the craniofacial presentation and subsequent management of the syndrome, as well as its associated micrognathia and airway complications. Among treatment options, the investigators chose bilateral distraction osteogenesis of the mandible in order to increase the subject's posterior airway space. At follow-up, the subject was able to ventilate without any adjuncts or mechanical ventilation assistance.
4号染色体长臂缺失综合征是一种单体综合征，包括4号染色体长臂的所有间质和末端缺失。它会导致多种表型，其特征为各种颅面和身体异常。本研究的目的是报告一例4号染色体长臂缺失综合征病例，并描述其临床表现，特别关注该综合征的颅面表现及后续处理，以及与之相关的小下颌和气道并发症。在治疗方案中，研究人员选择了双侧下颌骨牵张成骨术，以增加患者的后气道空间。随访时，患者无需任何辅助设备或机械通气支持即可通气。
