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Citation:
Willison A, Sharma R, Robinow-Sorauf syndrome. Reference article, Radiopaedia.org (Accessed on 17 Feb 2025) https://doi.org/10.53347/rID-70540
Robinow-Sorauf syndrome (RSS) is a rare, autosomal dominant type of acrocephalosyndactyly syndrome (ACS).
Rather than being a distinct ACS, it has now generally accepted that RSS is, in fact, part of the Saethre-Chotzen syndrome phenotypic spectrum 1. This is due to similar phenotype and both being attributed to mutations in the TWIST1 gene 1.
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1. Thakur AR, Naikmasur VG. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. (2014) Indian journal of dentistry. 5 (2): 96-9. doi:10.4103/0975-962X.135276 - Pubmed
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