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Ovarian cavernous hemangioma 总被引:1,自引:0,他引:1
Vascular tumors of the female genital tract are rare, especially those of the ovary. Most cases are small lesions that are discovered incidentally. We describe a 68-year-old woman with a benign hemangioma that presented clinically as a very large ovarian mass. 相似文献
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Noonan syndrome 总被引:1,自引:0,他引:1
Allanson JE 《American journal of medical genetics. Part C, Seminars in medical genetics》2007,(3):274-279
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits. 相似文献
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John M. Opitz 《American journal of medical genetics. Part A》1985,21(3):515-518
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J E Allanson 《Journal of medical genetics》1987,24(1):9-13
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Maria Cristina Digilio Bruno Marino Fernando Picchio Daniela Prandstraller Alessandra Toscano Aldo Giannotti Bruno Dallapiccola 《American journal of medical genetics. Part A》1998,80(2):160-162
Congenital heart defect (CHD) is present in half of the propositi with Noonan syndrome (NS). Aortic coarctation (AC) is rarely seen in NS, since only three male patients with NS and AC have been previously reported. On the other hand, AC is common in the Ullrich-Turner syndrome, an aneuploidy disorder and not a mendelian syndrome. In order to evaluate if AC is truly rare in patients with NS, we reviewed our series of 184 propositi with NS and CHD. AC was diagnosed in 16 (8.7%) patients. There were 11 males and 5 females. All had normal chromosomes. Clinical characteristics of the patients are described. Familial occurrence was detected in one girl with NS and AC whose mother and sibs also had NS, but different form of CHDs. Thus, AC is more frequent in NS than previously reported. Am. J. Med. Genet. 80:160–162, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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目的评价使用平阳霉素碘化油乳剂经肝动脉栓塞治疗肝海绵状血管瘤的临床疗效。方法50例肝血管瘤患者.其中男性21例.女性29例.年龄23~70岁.平均年龄49岁。血管瘤位于肝左叶11例,肝右叶32例,同时累及肝两叶者7例;病变单发者30例,多发者20例。有上腹隐痛、腹胀、贫血及腹部包块等症状者22例,无症状者28例。全部病例经B超、CT、MRI和/或肝动脉造影确诊。采用DSA设备,以Seldinger技术经股动脉穿刺插管,行选择性肝动脉、肠系膜上动脉造影。其中10例为2次栓塞.40例行1次栓塞。通过导管超选择插管至肝血管瘤的供血动脉.使用平阳霉素碘化油乳剂经肝动脉进行栓塞治疗。结果所有病例均成功实施了栓塞治疗.治疗后患者症状缓解.瘤体缩小.无严重并发症,生活质量明显提高。结论使用平阳霉素碘化油乳剂经肝动脉栓塞治疗肝海绵状血管瘤疗效肯定,安全性好。 相似文献
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眼眶海绵状血管瘤的影像学诊断评价 总被引:1,自引:0,他引:1
目的 比较MRI、CT和超声在诊断眼眶海绵状血管瘤中的作用。方法对21例眼眶海绵状血管瘤患者进行MRI、CT及超声检查。结果超声能够揭示海绵状血管的病理组织学类型;MRI及CT可反映肿瘤的良性特征,根据肿瘤的影像学表现及临床特点可对大多数眼眶海绵状血管瘤作出定性诊断。两种方法均有助于肿瘤的准确定位,MPI可明确肿瘤与视神经的关系及显示“渐进性强化”特征。结论 MPI无论定性还是定位均优于CT;超声对眼眶海绵状血管瘤的定性诊断有重要作用。 相似文献
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We report a hemodynamical assessment of the blood turnover pattern as well as the imaging of cavernous hemangioma in a cavernous sinus using time-resolved contrast enhanced 2D projection MRA, also known as MR-DSA, and conventional digital subtraction angiography (DSA), before and after radiotherapy. MR-DSA showed very fast dynamical images of a contrast turnover pattern and was well matched with the findings obtained from DSA. MR-DSA is a non-invasive study, and can replace DSA in examining a vascular tumor for the initial work-up and follow-up examination. 相似文献
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Noonan syndrome: the changing phenotype 总被引:7,自引:0,他引:7
J E Allanson J G Hall H E Hughes M Preus R D Witt 《American journal of medical genetics》1985,21(3):507-514
Among the multiple congenital anomalies (MCA) syndromes, the Noonan syndrome (NS) is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. Autosomal dominant inheritance of Noonan syndrome with variable expressivity has been documented in many families. Genetic heterogeneity has been postulated in Noonan syndrome because of the wide phenotypic variability, the relatively high incidence, and the occasional recurrence in sibs with apparently normal parents. Clinical variability is usual in autosomal dominant disorders, and mildly affected individuals may be difficult to recognize as gene carriers. Thus, a family with two or more affected children may simulate autosomal recessive inheritance. We have studied serial and family photographs of NS individuals in order to assess the likelihood of gene carriers' being missed in genetic studies. We have confirmed wide clinical variability within families, and more importantly, we have documented marked change of phenotype with age from the newborn period, infancy, childhood, and adolescence to adulthood. Manifestations in adults may be subtle and some without a known heart defect or other medically significant problems may have been considered normal in the past. Our study, while not ruling out causal heterogeneity, suggests that the change of phenotype with age may have been falsely perceived as clinical heterogeneity. A particular and subtle phenotype must be searched for in parents of affected children. 相似文献
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Stephen Robertson Bobby Tsang Salim Aftimos 《American journal of medical genetics. Part A》1997,71(1):111-114
We report on an infant with severe Noonan syndrome, chylothoraces, and hepatosplenomegaly who suffered two episodes of cerebral infarction before age 6 months. No underlying cause for these events was found. The presentation is discussed in relationship to other reports of stroke in Noonan syndrome which have previously been associated with underlying vascular malformations. Am. J. Med. Genet. 71:111–114, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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Prada CE Zarate YA Hagenbuch S Lovell A Schorry EK Hopkin RJ 《American journal of medical genetics. Part A》2011,155(6):1360-1366
Neurofibromatosis type 1 and Noonan syndrome are both common genetic disorders with autosomal dominant inheritance. Similarities between neurofibromatosis type 1 and Noonan syndrome have been noted for over 20 years and patients who share symptoms of both conditions are often given the diagnosis of neurofibromatosis-Noonan syndrome (NFNS). The molecular basis of these combined phenotypes was poorly understood and controversially discussed over several decades until the discovery that the syndromes are related through disturbances of the Ras pathway. We present an infant male with coarse facial features, severe supravalvar pulmonic stenosis, automated atrial tachycardia, hypertrophic cardiomyopathy, airway compression, severe neurological involvement, and multiple complications that lead to death during early infancy. The severity of clinical presentation and significant dysmorphic features suggested the possibility of a double genetic disorder in the Ras pathway instead of NFNS. Molecular analysis showed a missense mutation in exon 25 of the NF1 gene (4288A>G, p.N1430D) and a pathogenic mutation on exon 8 (922A>G, p.N308D) of the PTPN11 gene. Cardiovascular disease has been well described in patients with Noonan syndrome with PTPN11 mutations but the role of haploinsufficiency for neurofibromin in the heart development and function is not yet well understood. Our case suggests that a double genetic defect resulting in the hypersignaling of the Ras pathway may lead to complex cardiovascular abnormalities, cardiomyopathy, refractory arrhythmia, severe neurological phenotype, and early death. 相似文献
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Michael Sharland Maureen Morgan Gill Smith Michael Burch Michael A. Patton 《American journal of medical genetics. Part A》1993,45(4):437-440
A clinical and echocardiographic study is presented of 117 families with Noonan syndrome. The 117 families contained 144 individuals with typical Noonan syndrome. The age range of these individuals was from one week to 45 years (mean 12.0 years). One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained. © 1993 Wiley-Liss, Inc. 相似文献
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Noonan syndrome: a review 总被引:7,自引:0,他引:7
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Short stature is a very common manifestation of Noonan syndrome (NS) and is accompanied by a variable delay in bone age. Although reports of adult height in NS are uncommon, some feel growth hormone therapy will increase adult height. We report our findings in 73 adults over 21 years of age with NS. Thirty percent of this group had an adult height in the normal range between 10th percentile and 90th percentile. Over half of the females and nearly 40% of males had an adult height below the 3rd percentile. The presence or severity of heart disease was not a factor, and none of the adults with a normal height had been treated with growth hormone. Serial measurements of height for many years through childhood to adulthood were available in only a few patients, but their pattern of growth suggests catch up may occur in late adolescence. To evaluate the benefit of growth hormone therapy, long term serial height measurements over a period of years comparing treated and untreated patients are needed. It will be important to determine what role, if any, the mutated PTPN 11 gene plays in the short stature common in NS. 相似文献