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