Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review [0.03%]
RAX家族基因的新纯合子突变与双眼无眼和严重内分泌功能障碍的相关性研究报告及文献回顾
Yasmin H A El-Nahry,Victor Bardinet,Christoph Bührer et al.
Yasmin H A El-Nahry et al.
Objectives: Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born wi...
Acute fatty liver of pregnancy with transient resolution preceding postpartum liver failure requiring liver transplant [0.03%]
妊娠急性脂肪肝短暂缓解后产后肝衰竭需要进行肝脏移植
Rachel Lee,Kimberly Herrera,James Bernasko
Rachel Lee
Objectives: Acute fatty liver of pregnancy (AFLP) is a rare, potentially fatal complication of unknown etiology that occurs in the third trimester or early postpartum and can be associated with adverse maternal and fetal ...
An unusual case of twin anemia polycythemia sequence complicated by premature ductus arteriosus constriction of the recipient twin [0.03%]
供体胎儿贫血重受体胎儿动脉导管早闭一例报告及文献复习
Ravi Chokshi,Kathryn McMullen,Shelly Soni et al.
Ravi Chokshi et al.
Objectives: To add to the nascent literature on twin anemia polycythemia sequence by presenting a unique cardiac complication in the recipient twin. Case ...
Yushi Abe,Kazunori Ueno,Saki Tamura et al.
Yushi Abe et al.
Objectives: Umbilical artery thrombosis (UAT) is a rare and severe condition associated with grave perinatal outcomes, including intrauterine fetal death. This case report presents the case of a 38-year-old woman (gravida...
Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2 [0.03%]
产前诊断神经源性巨膀胱与致死性先天性挛缩症2型相关性研究报告
Christos G Hatjis,Wendy J Sturtz,Jillian Taylor et al.
Christos G Hatjis et al.
Objectives: To describe the prenatal diagnosis, unique clinical features, clinical and genetic evaluation, and the pregnancy and neonatal course of two siblings affected by Lethal Congenital Contractural Syndrome 2 (LCCS2...
Acquired factor VIII deficiency in a nulliparous patient undergoing induction of labor [0.03%]
未曾分娩者在引产过程中出现获得性 VIII 因子缺乏症
Nawras Zayat,Shirley Huang,Anthony Filipovic et al.
Nawras Zayat et al.
Objectives: To present a case of acquired factor VIII deficiency in the setting of labor and describe the challenges of its diagnosis and treatment. Case ...
Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings [0.03%]
先天性肌强直性营养不良的产前超声表现及病例报告
Zita Strelcovienė,Eglė Machtejevienė,Meilė Minkauskienė et al.
Zita Strelcovienė et al.
Objectives: Myotonic dystrophy 1 (DM1) is an autosomal dominant inherited neuromuscular disorder. The most severe form is congenital myotonic dystrophy (cDM). Prenatal diagnosis is complicated and sonographic findings of ...
Serial echocardiography in preterm infants with bronchopulmonary dysplasia: diagnosing and managing recurrent pulmonary vein stenosis [0.03%]
早产儿支气管肺发育不良的系列超声心电图检查：反复发生性肺静脉狭窄的诊断和治疗
Oishi Sikdar,Mahesh Nanjundappa,Aaron Bell et al.
Oishi Sikdar et al.
Objectives: To highlight the importance of serial echocardiography in preterm infants with bronchopulmonary dysplasia (BPD) to diagnose recurrent pulmonary vein stenosis (PVS) and understand its contribution to respirator...
Peripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report [0.03%]
围产期COVID-19和噬血细胞性淋巴组织细胞增生症：病例报告
Kathy Mostajeran,Daniel Rabulinksi,Abdul Khan et al.
Kathy Mostajeran et al.
Objectives: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of hypercytokinemia and immune dysregulation. Most commonly diagnosed in the pediatric population due to genetic predisposition, the condition can ma...
Radiofrequency thermal ablation of giant placental chorioangioma complicated with fetal hydrops: a case report and successful outcome [0.03%]
合并胎儿水肿的巨型胎盘血管瘤射频消融治疗一例报告及成功结局
Jack Le Vance,Leo Gurney,Shireen Meher et al.
Jack Le Vance et al.
Objectives: Chorioangiomas are the most frequently occurring type of benign tumour of the placenta. However, large chorioangiomas greater than 4 cm are rare and can be more frequently associated with serious complications...