排序方式: 共有12条查询结果,搜索用时 15 毫秒
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James D. Goldberg MD Frank A. Chervenak Robert A. Lipman Richard L. Berkowitz 《黑龙江环境通报》1986,6(1):45-49
Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case. 相似文献
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Amy Merrill Lynne Rosenblum-Vos Deborah A. Driscoll Katherine Daley Karen Treat 《黑龙江环境通报》2005,25(1):20-22
Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, café-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We describe two cases in which second-trimester sonographic findings led to parental carrier testing for FA-C and subsequent prenatal diagnosis of affected fetuses. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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Te-Yao Hsu Shiuh-Young Chang Tu-Jou Wang Chia-Yu Ou Zen-Huang Chen Pei-Hua Hsu 《黑龙江环境通报》2001,21(8):665-667
Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow‒up are presented. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Jozien T. J. Brons Hans J. Van Der Harten Herman P. Van Geijn Juri W. Wladimiroff Martinus F. Niermeuer Dick Lindhout Patricia A. Stuart Chris J. L. M. Meijer Nico F. Th Arts 《黑龙江环境通报》1990,10(5):279-288
Radial-ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n=3), VACTERL association (n=1), and Poland-Moebius-like complex (n= 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography. 相似文献
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R. Achiron MD O. Hamiel-Pinchas S. Engelberg G. Barkai B. Reichman S. Mashiach 《黑龙江环境通报》1992,12(9):765-771
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha- fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed. 相似文献
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C. Berg A. Geipel F. Noack J. Smrcek M. Krapp U. Germer G. Bender U. Gembruch 《黑龙江环境通报》2005,25(7):535-538
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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Prenatal ultrasonic diagnosis of a rare case of radial ray aplasia and crossed renal ectopy is described in an affected sibling of a family where the father and his son suffer from this rare syndrome. The prenatal diagnosis enabled early pregnancy termination. 相似文献