Clinical Analysis Of 11 Cases Of Wolf-Hirschhorn Syndrme

Objective:To probe clinical features and inherited trait and treatment and prognosis of children with Wolf-Hirschhorn syndrome(WHS).Methods:Conduct retrospective analysis the clinical material of 11 children with WHS between June 2009 and June 2018.Results:In this study,totally 15 cases met chromosome abnormalities diagnostic criteria,6 male,9 female,the median age of children receiving medication for the first time was 4 months,.The 15 children's chromosomal analysis showed that most WHS individuals(46.6%)had pure terminal deletions of 4p,the remaining aberration included pericentric inversion and duplication/insert and derivative and ring chromosome 4.among them,3 cases had done genetic testing to confirm the size of deletion.Only 11 children had been known clinical manifestations,the principal first symptom of 5 cases was epilepsy,5 cases was poor neonatal reflex or low weight,1 case was pneumonia.The main clinical manifestations included grow/mental retardation and epilepsy and the“Greek warrior helmet”appearance.In addition,there were other multiple congenital anomalies.Three cases died of pneumonia and convulsions in the first years of life,the survivors all had severe psychomotor retardation.Conclusion : WHS is the syndrome that core phenotype is “grow/mental retardation and epilepsy and special face and multiple congenital anomalies”,the disorder is caused by structural aberration of chromosome 4 so that the critical gene fragments lost from the distal portion of the short arm of chromosome 4(4p16.3).It has a poor prognosis.