Those blue eyes; an eye opener – A rare case report of Marshall-Smith syndrome

Abstract

We report a 6-month-old female baby, with dysmorphic facies, recurrent respiratory tract infections, and failure to thrive. A detailed search for genetic causes of failure to thrive including next-generation sequencing revealed the diagnosis of a very rare entity; Marshall–Smith syndrome, a syndrome with very high early mortality. On further evaluation, she was noted to have disordered osseous maturation. She is now on regular follow-up for early intervention and rehabilitation.