Holt-Oram综合征的产前诊断。
Prenatal diagnosis of Holt-Oram syndrome.
作者信息
Foreste Virginia, Riccardi Carla, Zizolfi Brunella, Gallo Alessandra, Di Spiezio Sardo Attilio
机构信息
Department of Neuroscience Reproductive Sciences and Dentistry School of Medicine, School of Medicine, University of Naples Federico II Naples, Naples, Italy.
Department of Public Health, School of Medicine, University of Naples Federico II Naples, Naples, Italy.
出版信息
Case Rep Perinat Med. 2022 Jun 16;11(1):20210058. doi: 10.1515/crpm-2021-0058. eCollection 2022 Jan.
OBJECTIVES
To detect common congenital disorders in Holt-Oram syndrome.
CASE PRESENTATION
We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome.
CONCLUSIONS
Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.
目的
检测 Holt-Oram 综合征中的常见先天性疾病。
病例介绍
我们报告一例 32 岁初产妇，因 Holt-Oram 综合征转诊至我院进行孕中期常规解剖扫描。超声检查报告显示双侧桡骨发育不全、尺骨轻度弯曲以及双侧手部扭转伴四条指骨射线。还检测到右心房显著增大但无三尖瓣反流。患者拒绝羊水穿刺，产后评估确诊为 Holt-Oram 综合征。
结论
Holt-Oram 综合征是一种常染色体显性遗传病。其特征为上肢骨骼异常和先天性心脏畸形。该突变可遗传，但大多数病例是由无该疾病家族史患者的新发突变引起的。
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