Research on the Diagnosis of Smith-Magenis Syndrome / 中山大学学报(医学科学版)

ABSTRACT

[Objective] We explore the diagnosis of Smith-Magenis syndrome and its clinical features of children,to raise the domestic awareness of this disease.[Methods] In this study,the child received peripheral blood chromosome microarray analysis,blood routine and urine routine,growth hormone provocation test,insulin-like growth factor Ⅰ and insulin-like growth factor binding protein Ⅲ test,cortisol (8a) test,prolactin test,adrenocorticotropic hormone test,thyroid function test,liver and kidney function test,blood biochemistry test,fasting insulin test,2-hour plasma glucose test,the antibodies and antigens test of hepatitis B.The bone age measurement and the pituitary gland MRI were also performed.We use the above figures to diagnose Smith-Magenis syndrome,assess and observe the condition of the child in Smith-Magenis syndrome.[Results] In this case,the chromosomal microarray analysis revealed a deletion of about 3.6Mb fragments in the chr17p11.2 region,including main functional gene RAI1,which was associated with Smith-Magenis syndrome.According to the clinical manifestations and the result of chromosome microarray analysis,the diagnosis of children with Smith-Magenis syndrome was made clear.[Conclusion] Genetic tests are the standard for diagnosing Smith-Magenis syndrome.When children have special facial features combined with multiple system disorders,early genetic examination is conducive to early diagnosis,and can reduce the time and economic cost.