Bharadwaj Srabani, Chan Charmaine, Choo Tze Liang Jonathan, Sanamandra Sarat Kumar, Fortier Marielle Valerie, Koh Ai Ling, Sundararaghavan Sreekanthan
Department of Neonatal and Developmental Medicine, Singapore General Hospital, Singapore, Singapore.
Yong Loo Lin School of Medicine, Singapore, Singapore.
Front Pediatr. 2022 Mar 15;9:814773. doi: 10.3389/fped.2021.814773. eCollection 2021.
We report a novel case of a full term newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, and cranial fractures in the immediate neonatal period. The infant had no classic features of neonatal arterial tortuosity syndrome or Loeys Dietz syndrome apart from bilateral inguinal hernia. He also had skeletal manifestations in the form of fractures in the neonatal period without any trauma during birth and without clinical evidence of Osteogenesis Imperfecta. A heterozygous missense variant of uncertain significance was detected in gene which is increasingly recognized to be belonging to the familial/hereditary thoracic aneurysm and aortic dissection group of disorders. Fetal hydrops as an association with arterial tortuosity has not been reported in the literature. We hypothesize the possible mechanism behind developing fetal hydrops in this case and discuss the genetic and phenotypic heterogeneity of the Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) group of conditions highlighting the unique phenotypic and genotypic presentations. We recommend a high index of suspicion and vigilance in the early detection of such potentially lethal conditions with sequelae also in adulthood.
我们报告了一例足月儿的新病例，该患儿患有非免疫性胎儿水肿和动脉迂曲，类似双主动脉弓，并在新生儿期即刻出现颅骨骨折。除双侧腹股沟疝外，该婴儿没有新生儿动脉迂曲综合征或洛伊斯-迪茨综合征的典型特征。他在新生儿期还出现了骨折形式的骨骼表现，出生时无任何外伤，也无成骨不全的临床证据。在一个基因中检测到一个意义不确定的杂合错义变异，该基因越来越被认为属于家族性/遗传性胸主动脉瘤和主动脉夹层疾病组。胎儿水肿与动脉迂曲相关的情况在文献中尚未见报道。我们推测了该病例中胎儿水肿发生的可能机制，并讨论了家族性胸主动脉瘤和夹层（FTAAD）疾病组的遗传和表型异质性，强调了其独特的表型和基因型表现。我们建议高度怀疑并保持警惕，以便早期发现此类在成年期也有后遗症的潜在致命疾病。
