Waller D K, Correa A, Vo Tuan M, Wang Y, Hobbs C, Langlois P H, Pearson K, Romitti P A, Shaw G M, Hecht J T
Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA.
Am J Med Genet A. 2008 Sep 15;146A(18):2385-9. doi: 10.1002/ajmg.a.32485.
There have been no large population-based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population-based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths). In Texas, fathers that were 25-29, 30-34, 35-39, and > or =40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population-based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records.
在美国,尚未有基于大规模人群的软骨发育不全和致死性侏儒症患病率研究。本研究比较了美国七个基于人群的出生缺陷监测项目的数据。我们还展示了父亲年龄较大与这些出生缺陷之间关联的数据,这在早期研究中已有描述。软骨发育不全的患病率为每10,000例活产中0.36至0.60例(1/27,780 - 1/16,670活产)。致死性侏儒症的患病率为每10,000例活产中0.21至0.30例(1/33,330 - 1/47,620活产)。在得克萨斯州,年龄在25 - 29岁、30 - 34岁、35 - 39岁以及≥40岁的父亲,其后代中软骨发育不全的新生病例发生率相较于年轻父亲显著增加。调整后的患病率比值比分别为2.8(95%可信区间;1.2,6.7)、2.8(95%可信区间;1.0,7.6)、4.9(95%可信区间;1.7,14.3)和5.0(95%可信区间;1.5,16.1)。使用相同的年龄分组,得克萨斯州致死性侏儒症新生病例的粗患病率比值比分别为5.8(95%可信区间;1.7,9.8)、3.9(95%可信区间;1.1,6.7)、6.1(95%可信区间;1.6,10.6)和10.2(95%可信区间;2.6,17.8)。这些数据表明,致死性侏儒症的发生频率是软骨发育不全症的三分之一至二分之一。各监测项目中这些病症患病率的差异与随机波动一致。只要通过病历审查确认诊断,出生缺陷监测项目可能是基于人群的软骨发育不全和致死性侏儒症研究的良好确诊来源。