伴有脑膨出的猫叫综合征的产前诊断
Prenatal diagnosis of cri du chat syndrome with encephalocele.
作者信息
Bakkum Jamie N, Watson William J, Johansen Keith L, Brost Brian C
机构信息
Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
出版信息
Am J Perinatol. 2005 Oct;22(7):351-2. doi: 10.1055/s-2005-871656.
PMID:16215919
Abstract
A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.
摘要
一名19岁初产妇在超声筛查时被发现患有脑膨出。羊水穿刺显示为猫叫综合征，5号染色体短臂缺失。虽然猫叫综合征与中枢神经系统畸形有关，但脑膨出在该综合征中是罕见的表现。
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