Clinical manifestations,diagnosis and genetic characteristics of Freeman-Burian syndrome
Objective To investigate the diagnosis and genetic characteristics of patients previously diagnosed with Freeman-Burian syndrome(FBS).Methods A total of 6 patients(5 males and 1 female)clinically diagnosed with FBS and underwent whole exome genetic testing were selected in our department,with an average age of 2.6 years.The retrospective study was carried out to review the information,clinical data,photos,examinations,and next-generation sequencing results,and summarize the clinical manifestations and genetic characteristics of the 6 patients.Results Among these 6 patients clinically diagnosed with FBS,only 1 met the diagnostic criteria for FBS.The remaining 5 patients were all DA 2B type,including 1 DA 2B1 type,2 DA 2B2 type,1 DA 2B3 type,and 1 DA 2B4 type.None of the 6 patients had a family history,and 5 patients had de novo mutations.One patient who met the diagnostic criteria for FBS had a mutation in the gene MYH3,but the genetic form was autosomal recessive inheritance.Conclusion Only 1 case in this group was FBS,and the remaining 5 cases of DA 2B type patients were misdiagnosed.
NETL
NSTL
万方数据
