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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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. |
format | Online Article Text |
id | pubmed-9272223 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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