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Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
Surasak Puvabanditsin1, Michelle Gorbonosov2, Kristin Blackledge3
1Department of Pediatrics Rutgers RWJ Medical School New Brunswick New Jersey USA.
Abstract:
We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and deep-set nails, metatarsal abductus, and cross-fused, small echogenic kidneys. 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. We reviewed the literature and compared our patient's phenotype with previously reported cases of SCD.
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