Abstract:
:Waardenburg syndrome Type I is described on the basis of an observation of a family. The characteristic signs including lateral displacement of medial canthi ("telecanthus"), wide bridge of the nose, white forelock and severe cochlear deafness are found in one female patient only; however, her eyes are not of different colour. Five further bearers of characteristic signs in four generations are not so severely affected and show the facial anomalies only. To differentiate this syndrome against Waardenburg syndrome Type II which is complicated by deafness twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful. Waardenburg syndromes are hereditary according to the autosomal dominant principle with high penetration; intrafamiliarly, too, expressivity can vary greatly. To date treatment has been directed at the signs and symptoms; prognosis is usually favourable. Prevention appears possible through genetic family counseling.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Meinecke Pdoi
10.1055/s-2008-1033785subject
Has Abstractpub_date
1982-03-01 00:00:00pages
112-6issue
2eissn
0300-8630issn
1439-3824journal_volume
194pub_type
杂志文章abstract::In 20 children with mumps and mumps meningitis thrombocyte functions, the thrombopoiesis and the platelet count were examinated over a four week period. The spontaneous, standardized platelet adhesion and aggregation on silikonized glass surface showed a statistically significant increase from the 5th to the 15th day ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::16 term and preterm neonates received intravenous nutriton for at least three days. The dosage was 1--2 g amino acids, 1 g of fat, and 8--10 g glucose per kg body weight and day. Compatibility was investigated by daily determinations of the amino acid pattern in the serum and measurement of free fatty acids and trigly...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-07-01 00:00:00
abstract::The article reports on the case history of a 8 month old baby who fell ill of a ileocolic intussusception. The barium enema demonstrated the typical cupping in the head of the barium. The successful reposition by hydrostatic pressure was manifest by barium reflux in the small intestine. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034383
更新日期:1983-07-01 00:00:00
abstract:BACKGROUND:17beta hydroxysteroid dehydrogenase deficiency is a presumable rare cause for a severe virilization disorder in children with 46,XY karyotype due to a defect in the testicular testosterone biosynthesis from androstenedione. PATIENT:We report on a 14 year old child with 46,XY karyotype with a predominantly f...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-34015
更新日期:2002-09-01 00:00:00
abstract::The synchronous occurrence of blasts of the lymphatic and myelogenous lineage in acute leukemia has been rarely observed. Reviewing individual case reports it is suggested that malignant transformation already starts at the level of the stem cell. We are reporting a case of a 13-year old boy who initially showed morph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034453
更新日期:1981-05-01 00:00:00
abstract:BACKGROUND:Spinal compression can be a complication of neuroblastoma (NBL). Delayed or insufficient treatment of this condition may lead to permanent neurological sequelae. Therefore, appropriate treatment should be introduced promptly. Therapeutic options include neurosurgery, chemotherapy, and radiation therapy. CAS...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1065340
更新日期:2008-05-01 00:00:00
abstract::We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, vertebral anomalies and anal atresia, which belong to the main ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract::Mucoid impaction and plastic bronchitis are relatively rare disorders affecting patients of any age. Here we report the case of mucoid impaction developing in a four-year-old child as a complication of pneumonic infection treated four weeks prior. p.a. chest X-ray and fiberoptic bronchoscopy showed atelectasis and the...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836608
更新日期:2006-03-01 00:00:00
abstract::We report about two patients with compression of the spinal cord caused by lymphosarcomas. In the first patient the tumour was localized in the lumbal region and destroyed two vertebrae. In the second patient the lymphosarcoma also infiltrated the meninx, the cord, and some internal organs. Both children died. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-03-01 00:00:00
abstract::Hemophagocytic lymphohistiocytosis (HLH) is a systemic inflammatory disorder characterized by uncontrolled histiocytic proliferation, hemophagocytosis, macrophage activation, and up-regulation of inflammatory cytokines (Grom AA., Current opinion in rheumatology 2003; 15: 587-590). HLH is usually divided into two types...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1110-7303
更新日期:2020-02-25 00:00:00
abstract::The paper reported about septicaemia in the neonatal and infant period. Continuing former investigations by Kienitz in the same pediatric clinic we have got a survey from 1933 to 1974. In the last years we saw increasingly more infections with gram-negative organisms, especially by Pyocyaneus with a severe prognosis. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-03-01 00:00:00
abstract::The death of a child after an oncologic disease gives rise to feelings of mourning, loss and anger in family members and often also in oncology team members. All people involved need to find ways of coping with these emotions and thought. Therefore, the oncology team of the Children's Hospital Tuebingen has, for many ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-33178
更新日期:2002-07-01 00:00:00
abstract::This report describes the case of a 10 days old newborn of a diabetic mother with gestosis, who developed erythema and swelling of the right cheek. A diagnosis of acute suppurative parotitis due to S. aureus was made. Following this case report the most important facts of epidemiology, pathogenesis, clinical manifesta...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-822675
更新日期:2005-03-01 00:00:00
abstract::Wegener's granulomatosis is together with Churg-Strauss syndrome and microscopic polyangiitis a very rare cause of hemoptysis in childhood. We report on a 14 years old girl who developed arthralgia, purpura, glomerulonephritis and a diffuse alveolar haemorrhage with hemoptysis after a short time period of unspecific s...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836847
更新日期:2006-01-01 00:00:00
abstract::The following paper is the manuscript of an oral presentation during the annual GPOH meeting on May 22nd, 2000 in Berlin. Following her experiences as a member of the psychosocial care team of a children's cancer unit the author discusses the emotional impact of stemcell or bone marrow transplantation in children. Psy...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2001-16857
更新日期:2001-07-01 00:00:00
abstract::Autoimmune hemolytic anaemia (AIHA) in childhood is associated with antibodies produced by the patient himself, which coat his red cells causing their hemolysis. Although in some cases no underlying disease could be found, in the majority of children a virus etiology is apparent. There are very few reports regarding t...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-05-01 00:00:00
abstract::Report of accidental ingestion and aspiration of lamp oil of a boy aged 16 months. He develops in a few hours a severe pneumonitis with tachycardia. Echocardiography shows diminished contractability. After losing his symptoms, the chest x-rays on the 13th day show bilateral pneumatoceles. The course remains asymptomat...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043916
更新日期:1998-11-01 00:00:00
abstract::A congenital diverticulum of the ventricle is a very rare cardiac lesion which is almost always associated with additional cardiovascular anomalies. In the majority of cases a diverticulum of the heart has been diagnosed during cardiac catheterization for evaluation of additional cardiovascular anomalies. We report no...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025221
更新日期:1993-05-01 00:00:00
abstract::Hypotension is diagnosed in a high percentage of very low birth weight infants, particularly in the first 24 hours after birth and the resultant clinical approach is to support the blood pressure vigorously. However, the research base is not yet available to give a definite answer to the question, which blood pressure...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2003-36890
更新日期:2003-01-01 00:00:00
abstract::We report the first case of non-immune hydrops fetalis (NIHF) with trisomy 15q11/17q22.5 resulting from a familial translocation 15/17. Furthermore the cytogenetic findings of 50 cases with hydrops fetalis are presented. Of the 30 cytogenetic analyzable cases 7 showed chromosomal abnormalities (4x45,X; 2x47,XY,+21; 1x...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026810
更新日期:1987-07-01 00:00:00
abstract::The article describes the method of counter-current immunoelectrophoresis as a rapid and safe technique for the identification of bacterial antigens in body fluids. This technique has proved very useful especially in patients who had been pretreated with antibiotics, since the culture yields are usually negative in su...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034426
更新日期:1981-01-01 00:00:00
abstract::This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemoph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-07-01 00:00:00
abstract::The Austrian Screening Program performed during the last 12 years 5,833.381 tests in 1,003.841 newborns to detect at last 10 different disorders. 225 cases were uncovered: 81 PKU, 1 Dihydropteridine-Reductase-Deficiency, 37 Hyperphenylalaninemias of long duration, 23 Galactosemias by Transferase deficiency, 6 by Kinas...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035649
更新日期:1980-11-01 00:00:00
abstract::The present paper reports on a striking increase in undesirable drug induced reactions during simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics to children in intensive care. In a 30-month study period, reactions which had to be classified as drug-induced were seen in 24 out of a tot...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025555
更新日期:1990-11-01 00:00:00
abstract::In children with primary immunodeficiencies, the onset of symptoms precedes the diagnosis and the initiation of appropriate treatment by months or years. This delay in diagnosis is due to the fact that while these disorders are rare, some of the infections seen in immunodeficient patients are common. Defective antibod...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1354415
更新日期:2013-11-01 00:00:00
abstract:INTRODUCTION:Gender dysphoria (GD) in childhood and adolescence is characterized by an incongruence between sex at birth and gender identity, which usually increases during puberty. Gender dysphoric children and adolescents often suffer from psychological comorbidities such as depression. The purpose of our study is to...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/a-1066-4625
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Flank swelling and pseudotumors of the kidney are unusual manifestations of obstructive uropathies in small children. Our case illustrates typical problems and briefly reviews management options. CASE REPORT:A 5-week-old boy presented with a large, palpable urinoma due to posterior urethral valves. Sonograp...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2006-933545
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVES:Despite about 3 decades of clinical experience with the therapy of inherited thrombocytopathies (HTP) with desmopressin (DDAVP) the mechanisms of haemostatic effects of DDAVP in these diseases remain unclear. Therefore platelet function diagnostics was carried out in whole blood (WB) from children with aspir...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0031-1275347
更新日期:2011-05-01 00:00:00
abstract::The Thorax-Tube according to Matthys and its successful application in 18 premature and mature newborns and older children is described. The advantages of this new device are discussed. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract:BACKGROUND:Intracellular antibodies (intrabodies) have been used for the generation of phenotypic knockouts in vivo by surface depletion of extracellular or transmembrane proteins. Intrabodies present an alternative to methods of gene inactivation that target genomic DNA or m-RNA, such as RNA interference. Several stud...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,收录出版
doi:10.1055/s-2006-933415
更新日期:2006-05-01 00:00:00