Objective To investigate the genetic and clinical characteristics of neonates with otopalatodigital syn-drome(OPDS)caused by FLNA gene mutation,so as to provide reference for clinical diagnosis and treatment.Methods The clinical manifestations,laboratory and imaging examinations,and gene mutation detection of a child with otopalatodigital syndrome were reported,and the related literature was reviewed.Results A full-term female newborn was found to have cleft palate(degree Ⅱ).The facial features were wide eye distance and small mandible.And the second toes of both feet were relatively large.Genetic examination showed that a heterozygous mutation was found in FLNA gene of the child:c.514C＞G(p.L172V),the result of pedigree verification showed that there was no variation in this locus in her parents.Conclusion The diagnosis of this case is clear,with obvious toe abnormalities and characteristic facial features.By summarizing the clinical and laboratory examination characteristics,we can strengthen the clinicians'understanding of this disease and discuss how to improve the accuracy of early diagnosis of this disease in neonatal and even in prenatal diagnosis,and follow up the long-term prognosis of the children with this disease.
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