Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright © 2001 John Wiley & Sons, Ltd.     

儿童腹股沟斜疝嵌顿急诊术后阴囊积液的预防及处理

总结儿童腹股沟斜疝嵌顿急诊术后阴囊积液出现的原因以及处理方式.回顾性分析2008年1月至2012年1月儿童腹股沟斜疝嵌顿急诊术后阴囊积液42例的临床资料.42例阴囊积液患者分为轻、中、重度均痊愈,其中轻度3 d左右恢复,中度5~7 d左右恢复,重度未合并感染7~10 d左右恢复,重度合并感染14 d内恢复.儿童腹股沟斜疝嵌顿急诊术后阴囊积液应注意围手术期的积极预防以及术后及时恰当的处理,即可避免严重并发症.参8.     

Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease

We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.