| Literature DB >> 35001324 |
David M Sherer1, Vicky Hsieh2, Freeda Granderson2, Hakeem Yusuf2, Mudar Dalloul2.
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.Entities:
Keywords: 7q11.23 Microdeletion; Isolated rocker bottom feet; Prenatal ultrasound; Williams syndrome; Williams–Beuren syndrome
Mesh:
Year: 2022 PMID: 35001324 PMCID: PMC9402838 DOI: 10.1007/s40477-021-00638-z
Source DB: PubMed Journal: J Ultrasound ISSN: 1876-7931