Abstract

PURPOSE – To report a case of Marshall smith syndrome
METHODS – 6-month-old female baby, with dysmorphic facies, recurrent respiratory tract infections, and failure
to thrive presented in our hospital.
RESULTS – 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.
CONCLUSION – She is now on regular follow-up for early intervention and rehabilitation.