García-Reyes Juan Camilo, Caro Mario Andrés, Vega Pablo, Ospina Juan Camilo, Zarante Ana María, Zarante Ignacio
Instituto de Genética Humana, Unidad de Otorrinolaringología y Cirugía Maxilofacial, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.
Acta Otorrinolaringol Esp. 2009 Mar-Apr;60(2):115-9.
Microtia is a major malformation of the auricle, comprising a clinical spectrum ranging from a slight reduction in the size of the auricle or one of its parts to the complete absence of the pinna (anotia). Its prevalence varies according to the region of the world it is evaluated in. We analyzed a range of maternal, neonatal, and familial variables in a case group and a control group, and compared them with the existing literature.
We collected information from the Latin-American Collaborative Study on Congenital Malformations (ECLAMC) gathered between 2001 and 2006, where we found 27 cases of isolated microtia; we also collected information from 103 control subjects. Data were analyzed using Student's t and odds ratio (OR).
Microtia distribution was 3 (11.1%) patients with grade I microtia, 19 (70.4%) with grade II microtia, 2 (7.4%) with grade III microtia. We found no patients with anotia. Regarding laterality, the right side was involved more often. Male-to-female ratio was 1.7:1. Birthweight pound 2,500 g produces an OR of 3.25 (95% CI, 1.11-9.58) for the development of microtia.
Microtia may be directly or indirectly associated with the early onset of labour. Future studies should include long-term follow up of the patients in order to detect possible anomalies of the oculo-auriculo-vertebral spectrum. It is also important to take anthropometric measurements to increase the likelihood of detecting cases of grade I microtia and mid-face hypoplasia, and to define with greater accuracy whether isolated microtia is the mildest form of the oculo-auriculo-vertebral syndrome.
小耳畸形是耳廓的一种主要畸形，临床表现范围从耳廓或其某一部分的轻微尺寸减小到耳廓完全缺失（无耳畸形）。其患病率因评估所在的世界区域而异。我们分析了病例组和对照组中的一系列母亲、新生儿及家族变量，并与现有文献进行了比较。
我们收集了2001年至2006年间拉丁美洲先天性畸形协作研究（ECLAMC）的数据，从中发现了27例孤立性小耳畸形病例；我们还收集了103名对照对象的信息。数据采用学生t检验和比值比（OR）进行分析。
小耳畸形分布情况为：I级小耳畸形患者3例（11.1%），II级小耳畸形患者19例（70.4%），III级小耳畸形患者2例（7.4%）。未发现无耳畸形患者。关于患侧，右侧受累更为常见。男女比例为1.7:1。出生体重低于2500克的婴儿患小耳畸形的OR为3.25（95%可信区间，1.11 - 9.58）。
小耳畸形可能与早产直接或间接相关。未来的研究应包括对患者的长期随访，以检测眼耳脊椎谱系可能存在的异常。进行人体测量也很重要，以增加检测I级小耳畸形和面部中部发育不全病例的可能性，并更准确地确定孤立性小耳畸形是否为眼耳脊椎综合征最轻微的形式。
