دورية أكاديمية
Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
| العنوان: | Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report |
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| المؤلفون: | Surasak Puvabanditsin, Michelle Gorbonosov, Kristin Blackledge, Jeffrey Manzano, Matthew Federici, Rajeev Mehta |
| المصدر: | Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022) |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | congenital anomaly, costovertebral malformation, Jarcho–Levin syndrome, spondylocostal dysplasia, Medicine, Medicine (General), R5-920 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| العلاقة: | https://doaj.org/toc/2050-0904Test |
| DOI: | 10.1002/ccr3.6000 |
| الوصول الحر: | https://doaj.org/article/0e7bc77b5dd34698941bdda0e2ec337dTest |
| رقم الانضمام: | edsdoj.0e7bc77b5dd34698941bdda0e2ec337d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.6000 |