Prenatal Diagnosis of Abnormal Sternum Development and Dilated Aortic Root in a Fetus with a Novel 204 kb Microdeletion of the TGFRB2 Gene  

作　　者：Rebecca A. Feldman Justin S. Brandt Beverly Coleman Michael T. Mennuti Rebecca A. Feldman;Justin S. Brandt;Beverly Coleman;Michael T. Mennuti(Maternal and Child Health Research Program, Department of Obstetrics and Gynecology, Center for Research on Reproduction and Women’s Health, University of Pennsylvania, Perelman School of Medicine, Philadelphia, USA;Rutgers-Robert Wood Johnson Medical School, Department of OBGYN, Maternal Fetal Medicine, New Brunswick, USA;Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, USA)

机构地区：[1]Maternal and Child Health Research Program, Department of Obstetrics and Gynecology, Center for Research on Reproduction and Women’s Health, University of Pennsylvania, Perelman School of Medicine, Philadelphia, USA [2]Rutgers-Robert Wood Johnson Medical School, Department of OBGYN, Maternal Fetal Medicine, New Brunswick, USA [3]Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, USA

出　　处：《Open Journal of Obstetrics and Gynecology》2016年第10期601-605,共5页妇产科期刊（英文）

摘　　要：The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.

关 键 词：Loeys-Dietz Syndrome Connective Tissue Disorders Dilated Aortic Root TGFBR1 TGFBR2 

分 类 号：R71[医药卫生—妇产科学]