title: A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.
abstract: The clinical classification 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 bifid 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.
authors.affiliation: Department of Oral Medicine and Radiology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India.
authors.forename: Arpita Rai
authors.initials: AR
authors.lastname: Thakur
authors.affiliation: Department of Oral Medicine and Radiology, SDM College of Dental Sciences and Hospital, Dharwad, Karnataka, India.
authors.forename: Venkatesh G
authors.initials: VG
authors.lastname: Naikmasur
keywords: Robinow-Sorauf syndrome; Saethre-Chotzen syndrome; TWIST mutation