Literature DB >> 35001324

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

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.
© 2021. Società Italiana di Ultrasonologia in Medicina e Biologia (SIUMB).

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


  12 in total

1.  Prenatal diagnosis of Williams syndrome based on ultrasound signs.

Authors:  Dorothée Krzeminska; Claude Steinfeld; Jean-Louis Cloez; Mireille Vibert; Michèle Chery; Didier Menzies; Brigitte Gilbert-Dussardier
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

2.  The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication.

Authors:  Yinghui Dang; Shanning Wan; Yunyun Zheng; Tingting Song; Chunyan Li; Yu Li; Jianfang Zhang
Journal:  Fetal Pediatr Pathol       Date:  2019-08-12       Impact factor: 0.958

3.  Isolated Bilateral Rocker Bottom Feet Associated With 2q13 Microdeletion.

Authors:  David M Sherer; Vicky Hsieh; Reshma Muppala; Freda Granderson; Mudar Dalloul
Journal:  J Ultrasound Med       Date:  2019-09-14       Impact factor: 2.153

Review 4.  Williams syndrome.

Authors:  Mark D Twite; Scott Stenquist; Richard J Ing
Journal:  Paediatr Anaesth       Date:  2019-05-02       Impact factor: 2.556

5.  Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies.

Authors:  Eva I Rubio; Nimisha Mehta; Anna R Blask; Dorothy I Bulas
Journal:  Pediatr Radiol       Date:  2017-09-06

6.  Long-term cardiovascular outcome of Williams syndrome.

Authors:  Seul Gi Cha; Mi Kyung Song; Sang Yun Lee; Gi Beom Kim; Jae Gun Kwak; Woong Han Kim; Eun Jung Bae
Journal:  Congenit Heart Dis       Date:  2019-06-05       Impact factor: 2.007

7.  Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity.

Authors:  Michael D Gregory; Carolyn B Mervis; Maxwell L Elliott; J Shane Kippenhan; Tiffany Nash; Jasmin B Czarapata; Ranjani Prabhakaran; Katherine Roe; Daniel P Eisenberg; Philip D Kohn; Karen F Berman
Journal:  Brain       Date:  2019-12-01       Impact factor: 13.501

8.  Prevalence estimation of Williams syndrome.

Authors:  Petter Strømme; Per G Bjørnstad; Kjersti Ramstad
Journal:  J Child Neurol       Date:  2002-04       Impact factor: 1.987

9.  Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.

Authors:  Meizhen Yuan; Linbei Deng; Yingjun Yang; Luming Sun
Journal:  Ann Hum Genet       Date:  2019-11-11       Impact factor: 1.670

10.  Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Authors:  Livia Marcato; Licia Turolla; Eva Pompilii; Celine Dupont; Nicolas Gruchy; Simona De Toffol; Gabriella Bracalente; Severine Bacrot; Enzo Troilo; Anne C Tabet; Sabrina Rossi; Anne L Delezoïde; Demetrio Baldo; Nathalie Leporrier; Federico Maggi; Arnaud Molin; Gianluigi Pilu; Giuseppe Simoni; Francois Vialard; Francesca R Grati
Journal:  Clin Case Rep       Date:  2014-02-06
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