A case of ‘Smith Magenis Syndrome’ with self-injurious behaviors and dysmorphic facial

Smith Magenis Syndrome is a rare, neurodevelopmental, multisystemic disorder with moderate to severe intellectual disability. The prevalence is estimated to be 1:25,000. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. It is characterized by speech delay, behavioral abnormalities, self-injurious behaviors, sleep disturbance and dysmorphic facial features. The most significant dysmorphic findings are a square-shaped face, broad nasal bridge, deep set eyes, upslanting palpebral fissures, midface hypoplasia and prominent lower jaw. Hypotonia, hyporeflexia, lethargy, cardiac, renal, urinary and central nervous system malformations, hearing loss, ophthalmologic pathologies, dental anomalies, short stature, brachydactyly, peripheral neuropathy and seizures are the findings that may accompany the disease. It does not have a specific treatment and requires a multidisciplinary approach because it involves multiple systems. Due to its rarity, a 4 year-old male patient with the complaints of inability to speak, seizures and self-injurious behaviors, who was found to have heterozygous deletion in the 17p11.2 region in DNA microarray analysis, is presented in this article
Keywords: Smith Magenis Syndrome, intellectual disability, dysmorphism, self-injurious behaviors