Golinko Michael S, Shetye Pradip, Flores Roberto L, Staffenberg David A
Institute of Reconstructive Plastic Surgery, New York University Langone Medical Center, New York, NY.
J Craniofac Surg. 2015 Nov;26(8):2387-92. doi: 10.1097/SCS.0000000000002150.
Agnathia-otocephaly complex (AOC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Though rare and often fatal, this is the first report detailing various reconstructive strategies beyond infancy as well as longitudinal follow-up into adulthood. All patients with AOC treated at our institution over a 30 year period were reviewed. Four patients were identified, one with agnathia, one with micrognathia. Two males with nanognathia (defined as a symphyseal remnant without body nor ramus) were also included. The mean follow-up was 17 years. All four underwent perinatal tracheostomy and gastrostomy-tube placement. Commissuroplasties were typically performed before 3 years of age and repeated as necessary to allow for oral hygiene. Mandibular reconstruction was most successful with rib between ages 3 and 8, after which time, free fibula transfer was utilized. Due to some resoprtion or extrusion, all patients underwent repeated bone grafting procedures. Tissue expansion of the neck was used to restore the lower third of the face, but was most successful in the teenage years. At last follow-up of the eldest patients, one was in college while another was pursuing graduate education. AOC need not be a fatal nor untreatable condition; a reasonable quality of life can be achieved. Although the lower-facial contour may be improved, and a stoma created, the lack of musculature make deglutition virtually impossible with current therapies. Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be a future option for congenital deformities.
无颌-耳-口面部综合征（AOC）的特征为下颌骨发育不全或发育不全、耳部异常、小口畸形和小舌畸形。尽管这种疾病罕见且往往致命，但这是第一份详细描述婴儿期后各种重建策略以及成年期纵向随访情况的报告。对我们机构在30年期间治疗的所有AOC患者进行了回顾。共确定了4例患者，1例为无颌畸形，1例为小颌畸形。还纳入了2例患有纳米小颌畸形（定义为无体部和下颌支的联合残留）的男性患者。平均随访时间为17年。所有4例患者均接受了围产期气管造口术和胃造瘘管置入术。口角成形术通常在3岁前进行，并根据需要重复进行以保持口腔卫生。下颌骨重建在3至8岁时使用肋骨最为成功，此后则采用游离腓骨移植。由于一些吸收或挤出情况，所有患者均接受了多次骨移植手术。颈部组织扩张用于修复面部下三分之一，但在青少年时期最为成功。在对年龄最大的患者的最后一次随访中，1例在上大学，另1例正在攻读研究生。AOC不一定是致命或无法治疗的疾病；可以实现合理的生活质量。尽管可以改善面部下轮廓并造口，但目前的治疗方法因缺乏肌肉组织而几乎无法实现吞咽功能。正如移植已成为严重创伤后面部修复的一种方式一样（此处英文原文有误，正确应为“Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be a future option for congenital deformities.”），它也可能成为先天性畸形未来的一种选择。
