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

Authors :
David M. Sherer
Vicky Hsieh
Freeda Granderson
Hakeem Yusuf
Mudar Dalloul
Source :
Journal of ultrasound. 25(3)
Publication Year :
2021

Abstract

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.

Details

ISSN :
18767931
Volume :
25
Issue :
3
Database :
OpenAIRE
Journal :
Journal of ultrasound
Accession number :
edsair.doi.dedup.....0ac4079e53c20bc4c837f48957540633