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Spondylocostal Dysplasia and Brachydactyly: a case report
  • +3
  • Surasak Puvabanditsin,
  • Michelle Gorbonosov,
  • Kristin Blackledge,
  • Jeffrey Manzano,
  • Matthew Federici,
  • Rajeev Mehta
Surasak Puvabanditsin
Rutgers Robert Wood Johnson Medical School New Brunswick
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Michelle Gorbonosov
Rutgers Robert Wood Johnson Medical School
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Kristin Blackledge
Rutgers Robert Wood Johnson Medical School
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Jeffrey Manzano
Rutgers Robert Wood Johnson Medical School
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Matthew Federici
Rutgers Robert Wood Johnson Medical School New Brunswick
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Rajeev Mehta
Rutgers Robert Wood Johnson Medical School
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Abstract

We report a preterm male neonate presenting with a skeletal dysplasia associated with multiple congenital anomalies. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH variants.

Peer review status:UNDER REVIEW

30 Oct 2021Submitted to Clinical Case Reports
01 Nov 2021Assigned to Editor
01 Nov 2021Submission Checks Completed
02 Dec 2021Reviewer(s) Assigned
08 Jan 2022Review(s) Completed, Editorial Evaluation Pending