
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome
Author(s) -
Arpita Rai Thakur,
Venkatesh G Naikmasur
Publication year - 2014
Publication title -
indian journal of dentistry
Language(s) - English
Resource type - Journals
ISSN - 0975-962X
DOI - 10.4103/0975-962x.135276
Subject(s) - medicine , variable expression , craniosynostosis , anatomy , genetics , biology , gene
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.