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Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever. 了解普罗透斯综合症，揭开象人的面纱，遏制象热。
Neurofibromatosis Pub Date : 1988-01-01
M M Cohen
{"title":"Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.","authors":"M M Cohen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Four patients with Proteus syndrome are reported; 3 of the 4 died of unusual causes. Current findings of the syndrome are reviewed, and the present state of its delineation is assessed with emphasis on what is known about natural history. Differential diagnosis includes neurofibromatosis, Klippel-Trénaunay-Weber syndrome, Maffucci syndrome, epidermal nevus syndrome, and the combination of Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome, now thought to constitute a single disorder. Conditions that may possibly overlap with Proteus syndrome--encephalocraniocutaneous lipomatosis and Thanos syndrome--receive special attention. Various suggested diagnoses for the elephant man's disorder are evaluated, and it is concluded that he suffered from Proteus syndrome, not neurofibromatosis. Finally, the psychosocial significance of elephant fever (EF) is discussed, and a plea is made for taking the EF out of NF.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 5-6","pages":"260-80"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14281727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Routine cranial neuroimaging of patients with or at risk for neurofibromatosis. 神经纤维瘤病或有危险患者的常规颅神经影像学检查。
Neurofibromatosis Pub Date : 1988-01-01
V M Riccardi
{"title":"Routine cranial neuroimaging of patients with or at risk for neurofibromatosis.","authors":"V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 2","pages":"65-8"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14283424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia. 费城儿童医院的神经纤维瘤病诊所。
Neurofibromatosis Pub Date : 1988-01-01
A C Obringer, E H Zackai, A T Meadows
{"title":"The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia.","authors":"A C Obringer,&nbsp;E H Zackai,&nbsp;A T Meadows","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia is a multidisciplinary clinic that provides a setting in which the diagnosis of neurofibromatosis can be made and follow-up of children with neurofibromatosis coordinated. It also offers genetic counseling to affected individuals and families. The Clinic acts as a referral center to the subspecialty disciplines when such specialty services are required. This report outlines the organization and operation of the Children's Hospital of Philadelphia Neurofibromatosis Clinic. It discusses the protocol used to evaluate the pediatric patient with neurofibromatosis and the importance of continuity of care for the patients and families.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 3","pages":"179-81"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14281762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The North American Study Group for Optic Glioma. 北美视神经胶质瘤研究小组。
Neurofibromatosis Pub Date : 1988-01-01
W B Wilson
{"title":"The North American Study Group for Optic Glioma.","authors":"W B Wilson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 4","pages":"199-200"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14401612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Schematic representation of von Recklinghausen neurofibromatosis (NF-1): an aid for patient and family education. von Recklinghausen神经纤维瘤病(NF-1)示意图:对患者和家庭教育的帮助。
Neurofibromatosis Pub Date : 1988-01-01
P P Powell
{"title":"Schematic representation of von Recklinghausen neurofibromatosis (NF-1): an aid for patient and family education.","authors":"P P Powell","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A schematic diagram depicting the full spectrum of clinical features of von Recklinghausen neurofibromatosis (NF-1) is presented.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 3","pages":"164-5"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14281759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The National Neurofibromatosis Foundation. 国家神经纤维瘤病基金会。
Neurofibromatosis Pub Date : 1988-01-01
P Bellermann
{"title":"The National Neurofibromatosis Foundation.","authors":"P Bellermann","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 1","pages":"60-2"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14283418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ventriculomegaly in neurofibromatosis-1. Association with Chiari type I malformation. 神经纤维瘤病的脑室肿大1。与Chiari I型畸形有关。
Neurofibromatosis Pub Date : 1988-01-01
A K Afifi, K D Dolan, J C Van Gilder, R W Fincham
{"title":"Ventriculomegaly in neurofibromatosis-1. Association with Chiari type I malformation.","authors":"A K Afifi,&nbsp;K D Dolan,&nbsp;J C Van Gilder,&nbsp;R W Fincham","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two cases of von Recklinghausen neurofibromatosis with a hitherto unreported association of ventriculomegaly and a Chiari type I malformation are described. Both cases had skeletal abnormalities at the cervicomedullary junction, contributing to neurological symptoms in 1. The literature on nontumor-related ventriculomegaly in neurofibromatosis is reviewed. The Chiari type I malformation should be considered as a cause of nontumoral ventricular enlargement in patients with von Recklinghausen neurofibromatosis.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 5-6","pages":"299-305"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14281730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. 遗传性肠神经纤维瘤病。2染色体12和14之间的易位。
Neurofibromatosis Pub Date : 1988-01-01
A Verhest, R Heimann, J Verschraegen, E Vamos, F Hecht
{"title":"Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.","authors":"A Verhest,&nbsp;R Heimann,&nbsp;J Verschraegen,&nbsp;E Vamos,&nbsp;F Hecht","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 1","pages":"33-6"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14282546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Angiomas and von Recklinghausen neurofibromatosis. 血管瘤和冯氏神经纤维瘤病。
Neurofibromatosis Pub Date : 1988-01-01
W Wertelecki, D W Superneau, L W Forehand, C J Hoff
{"title":"Angiomas and von Recklinghausen neurofibromatosis.","authors":"W Wertelecki,&nbsp;D W Superneau,&nbsp;L W Forehand,&nbsp;C J Hoff","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The notion that vascular alterations represent a major feature of the pathogenesis of neurofibromatosis (NF) has been supported by an increasing number of observations. We present data about skin Morgan angiomas in the general US white population and a cohort of patients with NF-1 and their unaffected relatives. Among patients with NF-1, angiomas were significantly more common, but not so among unaffected relatives. The striking nature of skin angiomas in some patients is illustrated by a mother-daughter pair with innumerable lesions of early onset. The mother also had a large venous angioma and a constriction of the siphon of an internal carotid artery.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 3","pages":"137-45"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14282954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. 美国国立卫生研究院共识发展会议声明:神经纤维瘤病。1987年7月13日至15日，美国马里兰州贝塞斯达。
Neurofibromatosis Pub Date : 1988-01-01
{"title":"National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"1 3","pages":"172-8"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14281761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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