Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses
Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses
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DOI：
10.1111/cga.12097
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发表时间：
2015-05-01
影响因子：
1.3
通讯作者：
Fujiwara, Ikuma
中科院分区：
文献类型：
--
作者：
Kaga, Akimune;Murotsuki, Jun;Fujiwara, Ikuma
软骨发育不全和唐氏综合征是相对常见的疾病。但是，在同一个病人同时发生这两种情况是罕见的，也没有报告胎儿分析这种情况下，产前超声和三维（3-D）螺旋计算机断层扫描（CT）。唐氏综合征患者的产前超声检查结果，如项襞增厚、心脏缺陷和肠回声，在患者中未发现。产前3-D螺旋CT显示头部较大，额骨隆起，长骨干骺端张开，髂骨翼小，提示软骨发育不全。在软骨发育不全和唐氏综合征合并的病例中，如果没有唐氏综合征的典型标志物，可能难以在产前诊断合并症。
Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome.