BIRTH PREVALENCE STUDY OF THE APERT SYNDROME
BIRTH PREVALENCE STUDY OF THE APERT SYNDROME
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DOI：
10.1002/ajmg.1320420505
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发表时间：
1992-03-01
期刊：
影响因子：
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通讯作者：
MARTINEZFRIAS, ML
中科院分区：
文献类型：
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作者：
COHEN, MM;KREIBORG, S;MARTINEZFRIAS, ML
报告了华盛顿州、内布拉斯加州、丹麦、意大利、西班牙、亚特兰大和北方加州的Apert综合征出生患病率和突变率的估计值。合并数据以增加Apert出生人数（n = 57），并产生更稳定的出生患病率估计值。据计算，Apert综合征的出生患病率约为15.5/1，000，000例新生儿，是早期研究确定的发病率的两倍。其主要原因似乎是在早期的研究不完全确定。本研究中点估计值的相似性和置信限的窄界表明，不同人群中Apert综合征的出生患病率相当一致。突变率计算为每代每个基因7.8 × 10 ~（-6）。Apert综合征约占所有颅缝早闭病例的4.5%。与一般人口的死亡率相比，死亡率似乎有所增加;然而，有必要对这一问题进行进一步研究。
Estimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1,000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8 x 10(-6) per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessary.