Abstract：
:Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Grundy RG,Pritchard J,Baraitser M,Risdon A,Robards Mdoi
10.1007/BF01954125keywords:
subject
Has Abstractpub_date
1992-12-01 00:00:00pages
895-8issue
12eissn
0340-6199issn
1432-1076journal_volume
151pub_type
杂志文章abstract：:By the description of two cases of osteoarticular infections due to Kingella kingae in two young children we wish to draw the attention of clinicians to invasive infections due to this micro-organism. Since its biological characterization in 1976, K. kingae has been increasingly reported as a human pathogen. Most comm...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02072618
更新日期：1991-07-01 00:00:00
abstract：:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014323
更新日期：1999-12-01 00:00:00
abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF01963553
更新日期：1991-01-01 00:00:00
abstract：INTRODUCTION:Prevention of obesity and overweight is an important target for health promotion. Early prevention requires an intervention during childhood and adolescence. At these stages, the game could be an appropriate means to teach nutrition knowledge and to influence dietary behaviour. To this end, the authors dev...
journal_title：European journal of pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00431-006-0153-9
更新日期：2006-09-01 00:00:00
abstract：:A benign cystic nephroblastoma in a 6-month-old boy is presented. Erroneous interpretation as malignant nephroblastoma led to unnecessarily aggressive therapy. There is no evidence of recurrence or metastatic disease 12 years after the initial resection. As shown in our case and in the others previously reported in th...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00447474
更新日期：1979-05-18 00:00:00
abstract：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-0954-4
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abstract：UNLABELLED:Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with promi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050714
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abstract：UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02002905
更新日期：1996-09-01 00:00:00
abstract：UNLABELLED:The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014403
更新日期：2000-12-01 00:00:00
abstract：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1459-9
更新日期：2011-09-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-016-2838-z
更新日期：2017-03-01 00:00:00
abstract：:The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03348-1
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abstract：UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-1740-x
更新日期：2005-12-01 00:00:00
abstract：:Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0819-6
更新日期：2009-06-01 00:00:00
abstract：UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014313
更新日期：1999-12-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-020-03887-y
更新日期：2020-11-27 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2665-7
更新日期：2016-04-01 00:00:00
abstract：:Female genital mutilation (FGM) is defined as an injury of the external female genitalia for cultural or non-therapeutic reasons. FGM is mainly performed in sub-Saharan and Eastern Africa. The western health care systems are confronted with migrants from this cultural background. The aim is to offer information on how...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0702-5
更新日期：2009-01-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02429063
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journal_title：European journal of pediatrics
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更新日期：2008-11-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1012-y
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955929
更新日期：1991-03-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 已发布勘误
doi：10.1007/s00431-019-03526-1
更新日期：2020-02-01 00:00:00
abstract：UNLABELLED:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1513-7
更新日期：2012-01-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072483
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051303
更新日期：2000-06-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051258
更新日期：1999-12-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00008352
更新日期：2000-11-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3246-3
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abstract：:We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00538945
更新日期：1979-06-28 00:00:00
