关键词: 　Wolf-Hirschhorn综合征；　4号染色体；　发育迟缓；　癫痫

Abstract: Objective　To investigate clinical features, genetic trait and treatment and prognosis of children with WolfHirschhorn syndrome (WHS). Methods　Clinical data of 11 children with WHS enrolled between June 2009 to June 2018 was retrospectively analyzed. Results　A total 15 cases (6 males and 9 females) met chromosome abnormalities diagnostic criteria, and the median age of children receiving medication for the first time was 4 months. Chromosomal analysis of 15 patients showed that most WHS individuals (46.6%) had pure 4p terminal deletions, and others had pericentric inversion and duplication/ insert and derivative and ring chromosome 4. Among them, 3 cases received further genetic testing to confirm the size of deletion. 11/15 children's clinical manifestations had been collected integrally, and the onset symptom of 5 cases was epilepsy, 5 cases poor neonatal reflex or low weight, and 1 case pneumonia. The main clinical manifestations included growth/ mental retardation, 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 a structural aberration of chromosome 4 which is featuring as “growth/mental retardation, epilepsy, special face and multiple congenital anomalies” caused by critical gene fragments loss in this segment. WHS has a poor prognosis.

Key words: 　Wolf-Hirschhorn syndrome;　chromosome 4;　developmental retardation;　epilepsy