Open AccessSpondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
Author(s) -
Puvabanditsin Surasak,
Gorbonosov Michelle,
Blackledge Kristin,
Manzano Jeffrey,
Federici Matthew,
Mehta Rajeev
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6000
Subject(s) - brachydactyly , medicine , syndactyly , anatomy , short stature
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.