Diamond-Blackfan Anemia: A Case Report and Review of the Literature

被引：2

作者：

Dorn, Kaitlyn M. ^{[1
]}

Burns, Kaitlyn D. ^{[1
,2
,3
]}

Trout, Maija A. R. ^{[1
,3
,4
]}

Ward, D. Isum ^{[2
,5
]}

Wagner, KayeLyn J. ^{[2
,5
]}

Meyer, Lauritz R. ^{[2
,5
]}

Baack, Michelle L. ^{[2
,5
,6
]}

Rodel, Rachel L. ^{[1
,4
]}

机构：

[1] Univ South Dakota, Sanford Sch Med, Dept Obstet & Gynecol, Sioux Falls, SD 57105 USA

[2] Sanford USD Med Ctr, Sanford Childrens Specialty Clin, Sioux Falls, SD USA

[3] Augustana Univ, Dept Genet, Sioux Falls, SD USA

[4] Sanford USD Med Ctr, Dept Obstet & Gynecol, Sioux Falls, SD USA

[5] Univ South Dakota, Sanford Sch Med, Dept Pediat, Sioux Falls, SD USA

[6] Sanford Res, Environm Exposures Hlth & Dis Grp, Sioux Falls, SD USA

来源：

NEONATOLOGY | 2021年 / 118卷 / 04期

关键词：

Diamond-Blackfan anemia; Congenital bone marrow aplasia; Radial ray defects; Fetal sonography; Rapid whole-exome sequencing;

D O I：

10.1159/000516030

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.

引用

页码：500 / 504

页数：5

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