OBJECTIVE: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS). METHODS: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. RESULTS: The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2). CONCLUSION The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
Child ; Facies ; Hirschsprung Disease/genetics* ; Humans ; Infant ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Mutation

Objective To systematically evaluate the short-term outcomes of laparoscopic splenectomy and azygoportal disconnection (LSD) with open splenectomy and azygoportal disconnection (OSD) in the prevention and treatment of portal hypertension (PHT) hemorrhage.Methods A meta-analysis was conducted to evaluate the short-term outcomes published in randomized controlled studies and high quality casecontrolled studies on patients who underwent LSD or OSD from January 2006 to January 2016.Results 1 359 patients from 18 Chinese and English articles which met the inclusion criteria were included into this study.LSD and OSD were performed in 685 patients (the LSD group) and 674 patients (the OSD group),respectively.Meta-analysis showed that there was no significant difference in operation time between the LSD and OSD groups [MD=17.66,95％CI=(-2.46 ～37.78),P＞0.05].When compared with the OSD group,the LSD group had a shorter postoperative hospitalization stay [MD =-3.99,95％ CI =(-4.82 ～ -3.16),P ＜ 0.05],earlier postoperatively first passing of flatus [MD =-1.09,95％ CI =(-1.41 ～ -0.78),P ＜ 0.05],less intraoperative bleeding [MD =-272.66,95％ CI =(-345.11 ～-200.21),P ＜ 0.05],a lower complication rate [OR =0.34,95％ CI =(0.25 ～ 0.47),P ＜ 0.05],less postoperative pain [MD =-2.54,95％ CI =(-2.79 ～-2.29),P ＜ 0.05],shorter postoperative ambulation time [MD =-3.16,95％ CI =(-3.53 ～-2.79),P ＜ 0.05],less amount of peritoneal drainage [MD =-180.28,95％ CI =(-293.06 ～-67.49),P ＜0.05] and earlier recovery from postoperative loss in appetite [MD =-1.42,95％ CI =(-1.70 ～-1.13),P ＜ 0.05].Conclusion Compared with the traditional OSD,LSD had the advantages of less invasiveness,quicker recovery and higher quality of life in the perioperative period.LSD is the preferred operation for the prevention and treatment of PHT massive hemorrhage.