Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Birth Defects Res. 2023 Aug 1;115(13):1216-1221. doi: 10.1002/bdr2.2212. Epub 2023 Jun 21.
TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava, is an X-linked recessive condition caused by deleterious variants in RBM10. Vitelline vascular remnants (VVR) are a rare vitelline duct anomaly with approximately 26 cases previously reported. There are no previously reported cases of VVRs in patients with TARP syndrome.
We present a male neonate diagnosed with TARP syndrome via trio whole exome sequencing who had classic features of this syndrome, although his course was additionally complicated by feeding intolerance with multiple episodes of abdominal distension. Serial imaging and contrast studies of the upper GI tract and small bowel demonstrated small bowel obstruction of unclear etiology. Given the poor prognosis associated with this condition, life-sustaining measures were withdrawn, and he passed away at 38 days of age. On autopsy, a VVR was unexpectedly identified with proximal bowel dilation, explaining his feeding intolerance.
We highlight the importance of full post-mortem examination in understanding the complete spectrum of manifestations of genetic syndromes and provide a review of the literature.
TARP 综合征的特征为马蹄内翻足、房间隔缺损、Robin 序列和永存左上腔静脉，是一种 X 连锁隐性疾病，由 RBM10 中的有害变异引起。脐血管残余物（VVR）是一种罕见的脐导管异常，先前已有约 26 例报道。在 TARP 综合征患者中，尚无 VVR 的先前报道。
我们报告了一名通过三人体外全基因组测序诊断为 TARP 综合征的男性新生儿，他具有该综合征的典型特征，尽管他的病程还伴有喂养不耐受，出现多次腹胀。上消化道和小肠的连续影像学和对比研究显示出原因不明的小肠梗阻。鉴于这种情况的预后不良，停止了维持生命的措施，他在 38 天去世。尸检时，意外发现了 VVR，近端肠管扩张，解释了他的喂养不耐受。
我们强调了全面的死后检查对于理解遗传综合征的全部表现谱的重要性，并回顾了文献。
