Paput László, Bánhidy Ferenc, Czeizel Andrew E
Department of Oto-Rhino-Laryngologic and Head/Neck Surgical Department, National Center for Healthcare Audit and Improvement, Budapest, Hungary.
Int J Pediatr Otorhinolaryngol. 2011 May;75(5):639-47. doi: 10.1016/j.ijporl.2011.01.041. Epub 2011 Feb 26.
To evaluate cases with unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM) in order to reveal the characteristic pattern of associated other component CAs and to attempt the so-called "registry diagnosis" on the pattern of associated CAs and to stimulate the establishment of an international registry of cases with UMAM.
The large population-based dataset of the Hungarian Congenital Abnormality Registry, 1980-1996, but component CAs of UMAM were based on medical records.
Finally 156 cases with UMAM were analyzed according to the number of 2-9 component CAs. There was a higher rate of bilateral anotia/microtia and anotia in UMAM cases parallel with the number of component CAs. Of 156 cases, 48 (30.8%) had registry diagnosis. The distribution of most component CAs is not random in UMAM cases, however, most CA-syndromes including anotia/microtia have not been delineated.
The evaluation of available dataset of cases with UMAM may help the identification of recognizable CA-syndromes and the delineation of new syndromes/associations with better prognosis and recurrence risk estimation, in addition to a better chance for their prevention.
评估患有未分类多重先天性异常（CAs）包括无耳/小耳（UMAM）的病例，以揭示相关其他组成部分先天性异常的特征模式，并尝试根据相关先天性异常的模式进行所谓的“登记诊断”，并推动建立国际UMAM病例登记处。
基于匈牙利先天性异常登记处1980 - 1996年的大规模人群数据集，但UMAM的组成部分先天性异常基于病历。
最终根据2 - 9个组成部分先天性异常的数量对156例UMAM病例进行了分析。UMAM病例中双侧无耳/小耳和无耳的发生率与组成部分先天性异常的数量呈平行关系。在156例病例中，48例（30.8%）有登记诊断。在UMAM病例中，大多数组成部分先天性异常的分布并非随机，但包括无耳/小耳在内的大多数先天性异常综合征尚未明确。
对UMAM病例现有数据集的评估可能有助于识别可识别的先天性异常综合征，明确新的综合征/关联，更好地估计预后和复发风险，此外还有更好的预防机会。
