The epidemiology of anotia and microtia
The epidemiology of anotia and microtia
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DOI：
10.1136/jmg.33.10.809
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发表时间：
1996-10-01
影响因子：
4
通讯作者：
Robert, E
中科院分区：
文献类型：
--
作者：
Harris, J;Kallen, B;Robert, E
我们研究了来自三个先天性畸形登记处（法国中东部、瑞典和加利福尼亚）的大量数据集，共954例，排除了已知的染色体异常。在不同的项目中，出生时的患病率差异很大，可能在很大程度上是因为不同的确定和纳入标准，从法国项目的0.76 / 10000例到瑞典项目的2.35例。在加州的项目中，患病率存在种族差异，白人（可能还有黑人）的患病率低于西班牙裔和亚洲人。此外，不同种族的人患厌食症和小厌食症的比例也不同，白人患厌食症的比例最低。厌食症和小症同样常与其他畸形相关联，并表现出其他类似的流行病学特征。在单侧病例中，右侧畸形比左侧更常见，特别是当耳朵畸形是孤立的。男性过剩，在个别形式中最为明显。在相关畸形中，最常见的是面腭裂和心脏缺陷（各占相关畸形婴儿的30%左右），其次是无眼或小眼（14%），肢体缺损或严重肾脏畸形（11%）和前脑畸形（7%）。观察到产妇胎次效应，胎次4以上（按产妇年龄标准化）的风险增加，患躁狂症比患小症更明显。
We studied a large data set from three registries of congenital malformations (central-east France, Sweden, and California), a total of 954 cases, known chromosome anomalies excluded. The prevalence at birth varied significantly between programmes, probably to a large extent because of different ascertainment and inclusion criteria, from 0.76 per 10 000 births in the French programme to 2.35 in the Swedish. Within the California programme, there is a racial variability in prevalence with lower values among whites (and probably blacks) than in Hispanics and Asians. Also the proportion of anotia and microtia varies between races with the lowest proportion of anotia in whites. Anotia and microtia are equally often associated with other malformations and show other similar epidemiological characteristics. In unilateral cases, the right side is more frequently malformed than the left side, especially when the ear malformation is isolated. There is a male excess, most pronounced in isolated forms. Among associated malformations, facial clefts and cardiac defects are the most common ones (each about 30% of infants with associated malformations), followed by anophthalmia or microphthalmia (14%), limb reduction defects or severe renal malformations (11%), and holoprosencephaly (7%). There is a maternal parity effect seen, an increased risk at parity 4+ (standardised for maternal age), more pronounced for anotia than microtia.