一个女婴,他在产前被诊断出患有复杂的心脏病,在出生后确认是Shone的情结,进行了双侧肺动脉束带术,出生后不久,动脉导管未闭支架插入和球囊主动脉瓣成形术。她被发现有双侧巨型子宫,左肾积水和脾。她终生服用预防性抗生素和额外的疫苗。她有两次假肠梗阻,但钡跟踪是正常的.她还患有大肠梗阻,Hirschsprung病的检查证实了诊断。人们注意到她有发育迟缓和张力减退,连同微妙的畸形。她也未能茁壮成长,进食困难。外显子组测序显示诊断为Mowat-Wilson综合征(MWS)。这个案例显示了以前未描述的Shone\的复杂关联,复杂的左侧阻塞性心脏缺陷,和MWS。它还强调了三外显子组测序在检测这种罕见突变中的有用性。
A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone\'s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone\'s complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.