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Jeffrey Manzano
Jeffrey Manzano
Joined Dec 2021

Public Documents 1
Spondylocostal Dysplasia and Brachydactyly: a case report
Surasak Puvabanditsin
Michelle  Gorbonosov

Surasak Puvabanditsin

and 5 more

December 02, 2021
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.
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