Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report

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...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Gorbonosov, Michelle, Blackledge, Kristin, Manzano, Jeffrey, Federici, Matthew, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272223/
https://www.ncbi.nlm.nih.gov/pubmed/35846898
http://dx.doi.org/10.1002/ccr3.6000
Descripción
Sumario: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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