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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:
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
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author Puvabanditsin, Surasak
Gorbonosov, Michelle
Blackledge, Kristin
Manzano, Jeffrey
Federici, Matthew
Mehta, Rajeev
author_facet Puvabanditsin, Surasak
Gorbonosov, Michelle
Blackledge, Kristin
Manzano, Jeffrey
Federici, Matthew
Mehta, Rajeev
author_sort Puvabanditsin, Surasak
collection PubMed
description 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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spelling pubmed-92722232022-07-15 Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report Puvabanditsin, Surasak Gorbonosov, Michelle Blackledge, Kristin Manzano, Jeffrey Federici, Matthew Mehta, Rajeev Clin Case Rep 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 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. John Wiley and Sons Inc. 2022-07-11 /pmc/articles/PMC9272223/ /pubmed/35846898 http://dx.doi.org/10.1002/ccr3.6000 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Puvabanditsin, Surasak
Gorbonosov, Michelle
Blackledge, Kristin
Manzano, Jeffrey
Federici, Matthew
Mehta, Rajeev
Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title_full Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title_fullStr Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title_full_unstemmed Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title_short Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
title_sort spondylocostal dysplasia and brachydactyly associated with tbx6 and ihh variants: a case report
topic Case Report
url 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
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