Abstract:
UNLABELLED:The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. CONCLUSION:The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Papagrigorakis MJ,Synodinos PN,Daliouris CP,Metaxotou Cdoi
10.1007/s00431-003-1262-3keywords:
subject
Has Abstractpub_date
2003-09-01 00:00:00pages
594-7issue
9eissn
0340-6199issn
1432-1076journal_volume
162pub_type
杂志文章abstract::Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959395
更新日期:1990-04-01 00:00:00
abstract::Henoch-Schonlein purpura (HSP) is an inflammatory vasculitis involving the skin, joints, gastrointestinal (GI) tract, and kidneys. This is the first case report describing a 5-year-old girl with HSP presenting duodenal involvement which might be associated with superior mesenteric artery syndrome (SMAS). ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0254-5
更新日期:2007-05-01 00:00:00
abstract:UNLABELLED:Adolescents are becoming more independently responsible for their medication regimen; therefore, adolescence is a crucial period to address medication beliefs, as many of the beliefs may persist into adulthood and can impair adherence and willingness to continue a prescribed therapy. Within this study, we ai...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2211-4
更新日期:2014-04-01 00:00:00
abstract::The United Nations Convention of Children's Rights (UNCRC) introduced in 1989 has generated a global movement for the protection of children's rights and has brought about a paradigm change in how children are perceived. Pediatric healthcare professionals are interacting with children and therefore with children's rig...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1205-8
更新日期:2011-01-01 00:00:00
abstract::A term newborn infant developed a right sciatic nerve palsy after ischaemic necrosis of the gluteal region following umbilical arterial catheterization. The nerve lesion was believed to be caused by entrapment and compression by scar tissue. Recovery was slow and remained incomplete up to 6 months of age. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00439407
更新日期:1986-09-01 00:00:00
abstract:UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100840
更新日期:2001-11-01 00:00:00
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
更新日期:2021-02-01 00:00:00
abstract:UNLABELLED:We describe a case of iatrogenic pseudo-Bartter syndrome caused by administration of prostaglandin E1 (PGE1 alprostadil). Although the use of i.v. PGE1 is a well-established pharmacological therapy in neonates with a ductus-dependent congenital cardiopathy to ensure ductus-dependent flow, we could only find ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1201-3
更新日期:2003-09-01 00:00:00
abstract::We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958427
更新日期:1991-05-01 00:00:00
abstract:UNLABELLED:Our aim was to determine whether the chest radiograph appearance at 7 days predicted chronic lung disease development (oxygen dependency at 36 weeks post-menstrual age) or death before discharge and if it was a better predictor than readily available clinical data. Two consecutive studies were performed. In ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1332-6
更新日期:2004-01-01 00:00:00
abstract::Chronic hepatitis B virus infection is among the most common causes of chronic liver disease in children. The aim of this study was to document prospectively our experiences related to lamivudine and high-dose interferon-alpha2a combination in naïve, e antigen positive, chronic hepatitis B virus infection treatment in...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-006-0220-2
更新日期:2007-03-01 00:00:00
abstract::The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2172-7
更新日期:2014-05-01 00:00:00
abstract::A multistage liquid impinger was used to collect the nebulised cloud from three separate nebulisers. The output of sodium cromoglycate collected was determined by a spectrophotometric assay. Estimating drug output purely from weight loss during nebulisation resulted in a considerable overestimate compared with direct ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00595919
更新日期:1989-02-01 00:00:00
abstract:UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-015-2566-9
更新日期:2015-11-01 00:00:00
abstract::An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany--the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna. The radiologically recognizable changes--non-calcified cartilaginous islan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441850
更新日期:1986-04-01 00:00:00
abstract:UNLABELLED:Henoch-Schönlein purpura (HSP) is a small-vessel disease in children that is often accompanied by kidney damage. Despite many efforts to improve the early assessment of renal injury in HSP patients, effective markers are still lacking. In recent years, the relationship between kidney injury molecule-1 (KIM-1...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2601-x
更新日期:2016-01-01 00:00:00
abstract::Chronic lung disease of prematurity (CLD) is a common respiratory disorder of preterm infants. At autopsy, fibroblast proliferation, and components of the extracellular matrix, including collagen and fibronectin, are markedly increased in the lungs of infants who die from CLD. Examination of broncho-alveolar fluid sug...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01958074
更新日期:1996-08-01 00:00:00
abstract::An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441526
更新日期:1989-06-01 00:00:00
abstract:UNLABELLED:Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02532526
更新日期:1996-12-01 00:00:00
abstract:UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051061
更新日期:1999-03-01 00:00:00
abstract::Cardiac function is impaired in adults or children with hypothyroidism and it can be reversed by levothyroxine (L-T(4)) substitution therapy. However, only a few studies are available on left and right ventricular function in neonates with congenital hypothyroidism (CH), most of which were performed with standard echo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0417-z
更新日期:2007-12-01 00:00:00
abstract:UNLABELLED:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050573
更新日期:1997-02-01 00:00:00
abstract:INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in M...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-008-0871-2
更新日期:2009-08-01 00:00:00
abstract::A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442747
更新日期:1984-11-01 00:00:00
abstract:UNLABELLED:Anatomical face mask with an air cushion rim might be placed accidentally in a false orientation on the newborn's face or filled with various amounts of air during neonatal resuscitation. Both false orientation as well as variable filling may reduce a tight seal and therefore hamper effective positive pressu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2122-4
更新日期:2014-01-01 00:00:00
abstract::The main goal for the neonatologist is to facilitate the adaptation to extra-uterine life during initial transition, while minimizing lung injury opening and protecting the premature lung from the first breath onwards. An appropriate management from birth should lead to the achievement of an early functional residual ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-2984-y
更新日期:2017-10-01 00:00:00
abstract:UNLABELLED:This retrospective study attempts to assess the size and growth pattern of the pulmonary artery about 1 year after neonatal arterial switch operation for simple transposition of the great arteries. Sixty-seven patients underwent cardiac catheterization, including catheterization of the right and left pulmona...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050777
更新日期:1998-02-01 00:00:00
abstract::Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442433
更新日期:1979-11-01 00:00:00
abstract:UNLABELLED:The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine gi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2457-5
更新日期:2015-06-01 00:00:00
abstract::Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1532-4
更新日期:2012-01-01 00:00:00