Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome

被引:0
作者
David M. Sherer
Vicky Hsieh
Freeda Granderson
Hakeem Yusuf
Mudar Dalloul
机构
[1] Downstate Health Sciences University,The Division of Maternal
来源
Journal of Ultrasound | 2022年 / 25卷
关键词
Prenatal ultrasound; Isolated rocker bottom feet; 7q11.23 Microdeletion; Williams–Beuren syndrome; Williams syndrome;
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学科分类号
摘要
Prenatal sonographic depiction of congenital vertical talus (rocker bottom feet), describing a prominent calcaneus and rounded convex appearance of the ventral aspect of the foot, has been reported with fetal Trisomies 18, 13, 9 HOXD10 mutations and recently 2q13 microdeletion. We present a 24 year old in whom mid-trimester sonographic finding of isolated bilateral rocker bottom feet led to diagnosis of 7q11.23 microdeletion—Williams syndrome. This association has not been reported previously. This case emphasizes the critical assessment of detail microarray upon prenatal sonographic notation of abnormal structural fetal features.
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页码:645 / 647
页数:2
相关论文
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