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| A case report of Rett syndrome and literature review |
| CHANG Qian1 DING Xia2 ZHOU Bingbo3 ZHANG Qiaoli1 WANG Fan1▲ YIN Liqin1 |
1.Department of Neonatology, Lanzhou University Second Hospital, Gansu Province, Lanzhou 730030, China;
2.Department of Pediatric Respiratory, Lanzhou University Second Hospital, Gansu Province, Lanzhou 730030, China;
3.Medical Genetics Center, Gansu Provincial Matemity and Child Health Hospital, Gansu Province, Lanzhou 730030, China
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Abstract A 3-month-old infant with microcephaly was reported, high-throughput sequencing of growth retardation genes, the results confirmed frameshift mutation in MECP2 gene, and a rare male child diagnosed with Rett syndrome combined with the clinical phenotype. Normal early development and age greater than six months of age are no longer necessary for diagnosis of classic Rett syndrome. This case report will provide some reference for the diagnosis of Rett syndrome, and improve the knowledge of clinical workers, in order to reduce the rate of misdiagnosis and missed diagnosis.
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