Abstract:
:A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Fear C,Briggs Adoi
10.1136/adc.54.2.135subject
Has Abstractpub_date
1979-02-01 00:00:00pages
135-8issue
2eissn
0003-9888issn
1468-2044journal_volume
54pub_type
杂志文章abstract::Human immunodeficiency virus (HIV) related cancers in children are not as common and as well described as in adults. An HIV epidemic has been prevalent in Zambia since 1983-1984. To study the effect of the epidemic on the epidemiology of cancers in children a retrospective study was undertaken at the University Teachi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.73.2.100
更新日期:1995-08-01 00:00:00
abstract::The performance of indirect indices of infection in the newborn vary because of differences in techniques, including diagnostic cut off levels. We have compared serial neutrophil band cell counts with C reactive protein measured by rate nephelometry. The 'gold standard' was a positive culture and the performance of th...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.7_spec_no.808
更新日期:1992-07-01 00:00:00
abstract::When children are considered for participation in research, British and international guidelines suggest that they should provide assent in addition to their parents' consent. However, examination of these guidelines shows there is confusion regarding the concept of assent. Furthermore, the need for assent may cause p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2011.211342
更新日期:2011-10-01 00:00:00
abstract::The association between current micturition habits and previous urinary tract infection was analysed among 3553 school entrants aged 7 years by means of a questionnaire. A high incidence of urinary infection, confirmed by urine culture, was found (145 (8.4%) in the 1719 girls and 32 (1.7%) in the 1834 boys). There was...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.2.232
更新日期:1991-02-01 00:00:00
abstract::Samples of saliva (4 in 24 hours), collected at monthly intervals for the first 6 months of life in 8 term infants by their mothers, were analysed for cortisol by radioimmunoassay. Values in the first month were more variable, daily mean values were greater, and amplitudes of variation were greater than in subsequent ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.6.454
更新日期:1983-06-01 00:00:00
abstract:OBJECTIVES:To develop waist circumference (WC) centile curves for UK South Asian children, to make comparisons with published centiles for British, indigenous Indian and Pakistani children, as well as to make anthropometric comparisons with their UK white peers. DESIGN:Cross-sectional study. SETTING:School-aged child...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2018-315722
更新日期:2020-01-01 00:00:00
abstract::No consistent differences were found in mean heights and weights of 170 schoolchildren aged 6--12 years with the sickle cell trait and 1247 schoolchildren with normal haemoglobin living in Dominica and Jamaica. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.7.596
更新日期:1978-07-01 00:00:00
abstract::After the introduction of the colposcope for the examination of children suspected of being sexually abused in Leeds, a study was undertaken to describe the findings in detail. A total of 109 consecutive prepubertal girls, mean age 70.4 months were assessed including colposcopic genital and anal examination, and peer ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.73.5.465
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Children receiving chemotherapy for acute lymphoblastic leukaemia (ALL) may be susceptible to skeletal morbidity. AIM:To determine the incidence and risk factors for skeletal morbidity in ALL children. PATIENTS AND METHODS:The medical records of all (n=186, boys=110) children presenting to a single centre ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.172528
更新日期:2010-10-01 00:00:00
abstract::We performed metabolic balance studies in 77 preterm infants fed on human milk or adapted formulas, to determine the renal solute load and compared it with the potential renal solute load estimated by the composition of the diet or the urine according to Ziegler's, Bergman's, and Shaw's calculations. The renal solute ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.4_spec_no.357
更新日期:1990-04-01 00:00:00
abstract:BACKGROUND:Sweat testing procedures are perceived to vary widely. AIM:To evaluate variability in sweat collection, analysis, and interpretation. METHODS:Questionnaire responses from 30 self selected centres: 15 paediatric centres, and 15 district general hospitals. RESULTS:Centres carried out 30-400 tests per year (...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.82.5.425
更新日期:2000-05-01 00:00:00
abstract::Significant folate deficiency in 14 out of 37 preterm infants of birthweights 2.0 kg or less was found to be reliably and most conveniently diagnosed by abnormal morphological changes in peripheral blood and confirmed by the response to folic acid. Deficiency appeared to be more common in light-for-dates infants inclu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.4.271
更新日期:1979-04-01 00:00:00
abstract::The practice of general paediatricians in the initial evaluation of congenital hypothyroidism (CHT) was assessed. This was performed by a questionnaire survey of paediatricians in East Anglia of whom 84% responded. Nineteen of 25 clinicians based in seven district hospitals managed children with CHT. The median number...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.77.4.339
更新日期:1997-10-01 00:00:00
abstract::An intravenous urogram and micturating cystourethrogram were carried out in 100 infants presenting with documented urinary tract infections. Ninety three cases were identified by suprapubic aspiration and 7 by culture of two voided urine samples containing greater than 100 X 10(6) organisms per litre. The urinary trac...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.7.620
更新日期:1984-07-01 00:00:00
abstract::Reverse triiodothyronine (rT3), triiodothyronine (T3), thyroxine (T4), and thyroid stimulating hormone (TSH) values were measured by radioimmunoassay in 40 children with congenital hypothyroidism who were being given levothyroxine (0.05-0.35 mg/day) and in 14 normal controls. In 15 of the children with hypothyroidism ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.1.30
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVES:To determine long-term seroprotection after serogroup C meningococcal (MenC) vaccination at the age of 9-12 years, with or without booster vaccination at the age of 13-15 years. DESIGN:Observational cohort study; follow-on from randomised study. SETTING:Participants were recruited from English secondary sc...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/archdischild-2013-303893
更新日期:2013-09-01 00:00:00
abstract::The relationship of vesicoureteric reflex (VUR) and renal scarring was studied in 94 children (188 kidneys) with proved urinary tract infection in a district general hospital. There were 61 girls and 33 boys, with nine girls and 17 boys aged less than 1 year, 31 girls and nine boys aged between 1 and 5 years, the rema...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.11.1282
更新日期:1991-11-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that reduced fetal growth leads to altered plasma insulin-like growth factor-1 (IGF-1) concentrations in childhood. DESIGN:A follow up study of 4 year old children whose birth weights were recorded, and of 7 year old children whose weight, length, head circumference, and placental weig...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.73.4.287
更新日期:1995-10-01 00:00:00
abstract::A postal survey of recently appointed consultant paediatricians was undertaken to determine whether they perceived their training had adequately equipped them for their current job. The response rate was 69% (207/299). After excluding replies from consultants trained outside the UK the analysis was carried out on 167 ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.4.381
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVES:Silver-Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive, typical facial phenotype and frequent body asymmetry. Feeding difficulties are frequently noted, but no study described evolution of gastrointestinal signs during...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305864
更新日期:2015-04-01 00:00:00
abstract::A preterm infant with classic phenylketonuria required rather less than 90 mg/kg of phenylalanine and between 270 and 290 mg/kg tyrosine daily to achieve a rate of weight gain of around 20 g/kg per day. Using Lofenalac as the low phenylalanine food, the intake of tyrosine, an essential amino acid for patients with phe...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.3.263
更新日期:1985-03-01 00:00:00
abstract::Two girls (a 5 year old and a 21 month old) experiencing mononucleosis syndrome with coincidental human herpesvirus (HHV)-7 and Epstein-Barr virus (EBV) infections are described. One patient had primary HHV-7 infection and reactivated EBV infection. The other had primary HHV-7 and EBV infections. These cases indicated...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.78.5.479
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic mul...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-314409
更新日期:2018-10-01 00:00:00
abstract:UNLABELLED:One hundred and seventy three children, including 93 with biliary atresia, received liver grafts at Addenbrooke's Hospital between 1983 and 1993. Of these, only seven developed cyanosis due to intrapulmonary shunting as a complication of their liver disease, and all seven of these had the biliary atresia/pol...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.6.501
更新日期:1994-06-01 00:00:00
abstract::Forty-seven cases of prune belly syndrome in children born between 1948 and 1977 are described. They have been classified into three groups according to the state of the urinary tract in the neonatal period. The results achieved in these cases form the basis of our present management. In group I, the most severely aff...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.11.856
更新日期:1982-11-01 00:00:00
abstract::The transport characteristics of the placenta, which favour higher phenylalanine concentrations in the fetus than in the mother, and regression data of head circumference at birth against phenylalanine concentration at conception in maternal phenylketonuria (PKU), suggest that treatment of maternal PKU should ideally ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.11.1346
更新日期:1991-11-01 00:00:00
abstract:AIM:To investigate the safety of bronchoscopy and endobronchial biopsy in children with difficult asthma, and discuss the ethical issues associated with the procedure. METHODS:A three year prospective observational study was performed in two tertiary paediatric respiratory centres specialising in the management of chi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.84.5.423
更新日期:2001-05-01 00:00:00
abstract:AIM:Several studies have suggested a beneficial effect of infant breastfeeding on childhood cognitive function. The main objective was to examine whether duration of breastfeeding and age at introduction of complementary foods are related to cognitive performance in 9- to 10-year-old school-aged children in South India...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.165159
更新日期:2010-05-01 00:00:00
abstract::Safe and effective paediatric pharmacotherapy requires careful evaluation of the type of drug substance, the necessary dose and the age-appropriateness of the formulation. Generally, the younger the child, the more the attention that is required. For decades, there has been a general lack of (authorised) formulations ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2015-308227
更新日期:2016-07-01 00:00:00
abstract::The lactulose/L-rhamnose urinary excretion ratio during continued infusion of milks containing both sugars was used as an index of the permeability of the neonatal bowel to large and small molecules. Healthy infants of gestational age 31-36 weeks proved to have a period of enhanced permeability to lactulose during the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.2.141
更新日期:1982-02-01 00:00:00