A familial case of VACTERL association with co-occurring sacrococcygeal teratoma: a case report

一例伴有骶尾部畸胎瘤的VACTERL综合征家族病例报告

阅读:1

Abstract

BACKGROUND: VACTERL association is a rare disorder characterized by a non-random co-occurrence of multiple congenital anomalies. Reported incidences of VACTERL are usually sporadic. CASE PRESENTATION: Here we present a case of familial VACTERL association in a male infant born full term at 38 weeks of gestation. The infant's maternal aunt also had significant features of VACTERL association but died in the first year of life. Due to the lack of specialized expertise and absence of detailed anomaly scans, the congenital anomalies were not detected prenatally. The baby also had a very rare co-occurrence of sacrococcygeal teratoma. CONCLUSION: Skillful personnel and equipment to detect the anomalies in-utero and the use of modern DNA sequencing techniques to detect the possible underlying genetic defects can help us better understand the pathophysiology of various congenital disorders. Early diagnosis is crucial for optimizing management strategies and counselling parents regarding potential outcomes.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。