A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifi d Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome

Abstract

The clinical classifi cation of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifi d or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented