Smith-magenis syndrome: A rare case report

Abstract

Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. This article presents a case report of a 7-year-old patient having this rare syndrome along with his genetic analysis.

Keywords

• 17p11.2 chromosome
• genetic
• mental retardation
• rai1 gene
• sleep disturbances