Tetra-amelia with multiple malformations in six male fetuses of one kindred.

Abstract:

:An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in families with Roberts syndrome are discussed.

journal_name

Eur J Pediatr

authors

Zimmer EZ,Taub E,Sova Y,Divon MY,Pery M,Peretz BA

doi

10.1007/BF00441792

subject

Has Abstract

pub_date

1985-11-01 00:00:00

pages

412-4

issue

4

eissn

0340-6199

issn

1432-1076

journal_volume

144

pub_type

杂志文章
  • Dopamine versus epinephrine for fluid-refractory septic shock in neonates.

    abstract:: ...

    journal_title:European journal of pediatrics

    pub_type: 评论,信件

    doi:10.1007/s00431-018-3252-5

    authors: Sasidharan R,Gupta N,Chawla D

    更新日期:2019-01-01 00:00:00

  • Prevalence of iron deficiency and related factors in Spanish adolescents.

    abstract::Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03651-2

    authors: Ibáñez-Alcalde MM,Vázquez-López MÁ,López-Ruzafa E,Lendínez-Molinos FJ,Bonillo-Perales A,Parrón-Carreño T

    更新日期:2020-10-01 00:00:00

  • Use of insulin pump therapy is associated with reduced hospital-days in the long-term: a real-world study of 48,756 pediatric patients with type 1 diabetes.

    abstract::In pediatric diabetes, insulin pump therapy is associated with less acute complications but inpatient pump education may lead to more hospital days. We investigated the number of hospital days associated with pump vs. injection therapy between 2009 and 2018 in 48,756 patients with type 1 diabetes < 20 years of age fro...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03883-2

    authors: Auzanneau M,Karges B,Neu A,Kapellen T,Wudy SA,Grasemann C,Krauch G,Gerstl EM,Däublin G,Holl RW

    更新日期:2021-02-01 00:00:00

  • Limp as unusual presentation of Langerhans' cell histiocytosis.

    abstract:UNLABELLED:An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310051097

    authors: Bodart E,Nisolle JF,Maton P,Delos M,Trigaux JP,Gilliard C,Tuerlinckx D,Ninane J

    更新日期:1999-05-01 00:00:00

  • Chromosome deletion and multiple cartilaginous exostoses.

    abstract::We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441586

    authors: Bühler EM,Bühler UK,Stalder GR,Jani L,Jurik LP

    更新日期:1980-03-01 00:00:00

  • Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

    abstract::An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441580

    authors: Fuhrmann W,Fuhrmann-Rieger A,de Sousa F

    更新日期:1980-03-01 00:00:00

  • Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.

    abstract:UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/pl00008368

    authors: Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada N

    更新日期:2000-12-01 00:00:00

  • The influence of perinatal risk factors on the incidence of atypical coagulation factor VII during the first days of life.

    abstract::The correlation between the appearance of functionally-atypical factor VII and perinatal complications was investigated in 66 newborn infants. The presence of an abnormal clotting factor was assumed if the ratio between clotting activity and antigen-related factor VII material exceeded the normal range for adult plasm...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00493570

    authors: Maak B,Frenzel J

    更新日期:1977-08-12 00:00:00

  • Percentile curves for red cell indices of beta zero-thalassaemia heterozygotes in infancy and childhood.

    abstract::This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02093721

    authors: Galanello R,Lilliu F,Bertolino F,Cao A

    更新日期:1991-04-01 00:00:00

  • Toxic shock syndrome and streptococcal myositis: three case reports.

    abstract:UNLABELLED:Group A streptococcal (GAS) infection is the most common cause of bacterial pharyngitis and has an important role in the pathogenesis of post-infective phenomena including rheumatic fever and glomerulonephritis. Mortality from GAS is uncommon, particularly in the paediatric population. Toxic shock syndrome r...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-002-1032-7

    authors: Watkins R,Vyas H

    更新日期:2002-09-01 00:00:00

  • The prevention of preterm birth with the use of antibiotics.

    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

    authors: Lamont RF

    更新日期:1999-12-01 00:00:00

  • New hospital-based policy for children whose parents present at the ER due to domestic violence, substance abuse and/or a suicide attempt.

    abstract::Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-012-1869-3

    authors: Hoytema van Konijnenburg EM,Sieswerda-Hoogendoorn T,Brilleslijper-Kater SN,van der Lee JH,Teeuw AH

    更新日期:2013-02-01 00:00:00

  • Implantable cardioverter defibrillator implantation in children in The Netherlands.

    abstract:UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-005-1668-1

    authors: Ten Harkel AD,Blom NA,Reimer AG,Tukkie R,Sreeram N,Bink-Boelkens MT

    更新日期:2005-07-01 00:00:00

  • Local therapy of rhabdomyosarcoma, osteosarcoma and Ewing's sarcoma of children and adolescents.

    abstract::Local control of the primary tumour is a fundamental requirement for clinical cure. Towards this aim, the primary tumour must be diagnosed early and identified histologically. The size, extension, and spread within the patient must be defined precisely. In planning effective local therapy, additional questions must be...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00451896

    authors: Prindull G,Willert HG,Notter G

    更新日期:1985-07-01 00:00:00

  • Pseudohyperkalaemia in Kawasaki disease.

    abstract::Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957752

    authors: Shimizu T,Yamashiro Y,Yabuta K

    更新日期:1992-07-01 00:00:00

  • Hypothalamic failure as a sequela of heterozygous protein C deficiency?

    abstract::Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed h...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01959356

    authors: Schmitt S,Auberger K,Fendel T,Kiess W

    更新日期:1992-06-01 00:00:00

  • Severe pulmonary arterial hypertension in type 1 glycogen storage disease.

    abstract::Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any f...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-002-1012-y

    authors: Humbert M,Labrune P,Simonneau G

    更新日期:2002-10-01 00:00:00

  • Elastase alpha 1 proteinase inhibitor complex, granulocyte count, ratio of immature to total granulocyte count, and C-reactive protein in neonatal septicaemia.

    abstract::In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02113257

    authors: Tegtmeyer FK,Horn C,Richter A,van Wees J

    更新日期:1992-05-01 00:00:00

  • High-frequency oscillatory ventilation in paediatric patients with acute respiratory distress syndrome--early rescue use.

    abstract:UNLABELLED:In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecu...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-004-1544-4

    authors: Ben Jaballah N,Mnif K,Bouziri A,Kazdaghli K,Belhadj S,Zouari B

    更新日期:2005-01-01 00:00:00

  • Comparison of clinical presentation of respiratory tract infections in H1N1/09-positive and H1N1/09-negative patients.

    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

    authors: Crisinel PA,Barazzone C,Kaiser L,L'Huillier AG,Taguebue J,Wagner N,Delcò C,Siegrist CA,Posfay-Barbe KM,H1N1 Pediatric Epidemiology Study Group.

    更新日期:2012-01-01 00:00:00

  • Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion.

    abstract::DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, b...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01956742

    authors: Hasegawa T,Hasegawa Y,Yokoyama T,Koto S,Asamura S,Tsuchiya Y

    更新日期:1993-04-01 00:00:00

  • Diagnosis delay in West syndrome: misdiagnosis and consequences.

    abstract::West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant durat...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00431-012-1813-6

    authors: Auvin S,Hartman AL,Desnous B,Moreau AC,Alberti C,Delanoe C,Romano A,Terrone G,Kossoff EH,Del Giudice E,Titomanlio L

    更新日期:2012-11-01 00:00:00

  • Predominance of large low density lipoprotein particles and lower fractional esterification rate of cholesterol in high density lipoprotein in children with insulin-dependent diabetes mellitus.

    abstract:UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050810

    authors: Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

    更新日期:1998-04-01 00:00:00

  • Factor VIII activity and factor VIII related antigen in newborns.

    abstract::Factor VIII procoagulant activity and factor VIII related antigen were examined in 20 full-term and preterm newborn infants during the first days of life. The control group involved 15 adults volunteers. Factor VIII activity was estimated by a one-stage test and factor VIII related antigen was determined by immunelect...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00445613

    authors: Maak B,Scheidt B,Frenzel J

    更新日期:1978-07-19 00:00:00

  • Intracranial bleeding during therapy with L-asparaginase in childhood acute lymphocytic leukemia.

    abstract::Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00443266

    authors: Urban C,Sager WD

    更新日期:1981-11-01 00:00:00

  • Genetic risk factors of thrombophilia in ischaemic childhood stroke of cardiac origin. A prospective ESPED survey.

    abstract:UNLABELLED:Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multice...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/pl00014336

    authors: Sträter R,Vielhaber H,Kassenböhmer R,von Kries R,Göbel U,Nowak-Göttl U

    更新日期:1999-12-01 00:00:00

  • Hypertension associated with skeletal traction in children.

    abstract::Since traction-associated hypertension seems to be a relatively unknown phenomenon, a survey was done of its incidence in children treated with skeletal traction for fractures and orthopaedic diseases. The correlation with hypercalcaemia, a possible aetiological factor, was also explored. Blood pressure was recorded t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957765

    authors: Heij HA,Ekkelkamp S,Vos A

    更新日期:1992-07-01 00:00:00

  • Twelve cases of tinea unguium in a pediatric clinic in 9 years.

    abstract::Tinea of the nails is not an exclusively adult pathology. The pediatrician should include this entity in the differential diagnosis. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0332-8

    authors: Martinez Roig A,Torres Rodriguez JM

    更新日期:2007-09-01 00:00:00

  • Oral vitamin A supplementation in very low birth weight neonates: a randomized controlled trial.

    abstract::This randomized double-blind placebo-controlled trial evaluated the effects of early postnatal oral vitamin A supplementation (VAS) in 196 inborn very-low birth weight (VLBW) infants requiring respiratory support at 24 h of age. Eligible infants were randomized to receive aqueous syrup of vitamin A (10,000 IU of retin...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00431-019-03412-w

    authors: Basu S,Khanna P,Srivastava R,Kumar A

    更新日期:2019-08-01 00:00:00

  • Testing with growth hormone-releasing factor (GRF(1-29)NH2) and somatomedin C measurements for the evaluation of growth hormone deficiency.

    abstract::Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02429048

    authors: Ranke MB,Gruhler M,Rosskamp R,Brügmann G,Attanasio A,Blum WF,Bierich JR

    更新日期:1986-12-01 00:00:00